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GLA Gene

protein-coding   GIFtS: 68

GC0XM090459
galactosidase, alpha
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
galactosidase, alpha1 2     agalsidase alfa2
GALA1 2     alpha-D-galactoside galactohydrolase 12
Alpha-D-galactosidase A2 3     EC 3.2.1.223
alpha-gal A2     Agalsidase3
alpha-galactosidase A2     Alpha-D-galactoside galactohydrolase3
melibiase2     Melibiase3

External Ids:    HGNC: 42961   Entrez Gene: 27172   Ensembl: ENSG000001023937   UniProtKB: P062803   

Export aliases for GLA gene to outside databases

Previous GC identifers: GC0XM095944 GC0XM097623 GC0XM098688 GC0XM099424 GC0XM100458 GC0XM100539 GC0XM100652


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLA:
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids
and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of
melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and
stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to
catabolize alpha-D-galactosyl glycolipid moieties. (provided by RefSeq)

Gene Wiki entry for GLA (Alpha-galactosidase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLA gene promoter:
         CREB   STAT5A   PPAR-gamma1   PPAR-gamma2   Cdc5   SREBP-1b   SREBP-1c   SREBP-1a   Arnt   deltaCREB   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GLA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GLA 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq21.3-q22

GLA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLA gene location

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM090459:  view genomic region     (about GC identifiers)

Start:
90,459,075 bp from pter
End:
90,468,889 bp from pter
Size:
9,815 bases
Orientation:
minus strand

1 alternative location:
ChrX- 100,652,791-100,662,913     
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280 (See protein sequence)
Recommended Name: Alpha-galactosidase A precursor  
Size: 429 amino acids; 48767 Da
Subunit: Homodimer
Subcellular location: Lysosome
Rna editing: Modified_positions=396; Note=Partially edited
PDB structures from and Proteopedia :
1R46 (3D)    1R47 (3D)    3GXN (3D)    3GXP (3D)    3GXT (3D)    3HG2 (3D)    3HG3 (3D)    3HG4 (3D)    
3HG5 (3D)    3LX9 (3D)    3LXA (3D)    3LXB (3D)    3LXC (3D)    

Explore the universe of human proteins at neXtProt for GLA: NX_P06280 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000160.1  

    ENSEMBL proteins: 
    ENSP00000218516 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    R&D Systems Recombinant & Natural Proteins for GLA (alpha-Galactosidase A/GLA)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: GLA
    OriGene Protein Over-expression Lysate: GLA
    GenScript Purified and Recombinant Proteins for GLA 
    Novus Biologicals Protein for GLA
    Novus Biologicals Lysate for GLA
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IMP1332979
    GO:0005737 cytoplasm IMP1332979
    GO:0005764 lysosome TAS3029062
    GO:0005794 Golgi apparatus IMP1332979
    About this table

    GLA for ontologies           About GeneDecksing



    Antibodies for GLA: 
    Millipore Mono- and Polyclonal Antibodies for the study of GLA
    Sigma-Aldrich Antibodies for GLA
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Superior Antibodies for GLA 
    Novus Biologicals Antibodies for GLA
    Epitomics antibodies for GLA

    Assays for GLA: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GLA 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GLA for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR017853 Glyco_hydro_catalytic_core
     IPR002241 Glyco_hydro_27
     IPR000111 Glyco_hydro_GHD
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P06280

    ProtoNet protein and cluster: P06280

    1 Blocks protein family: IPB002241 Glycosyl hydrolase family 27 signature

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Similarity: Belongs to the glycosyl hydrolase 27 family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Catalytic activity: Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including
    galactose oligosaccharides, galactomannans and galactolipids
    Enzyme Number (IUBMB): EC 3.2.1.22 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GLA
    Sigma-Aldrich shRNA for GLA
    OriGene 29mer shRNA kits in GFP-retroviral vector: GLA
    OriGene shRNA RFP: GLA
    OriGene basic RS shRNA: GLA
    OriGene siRNA: GLA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GLA 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GLA 
    Search SABiosciences for Assays for microRNAs that regulate GLA

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: GLA
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GLA
    OriGene untagged cDNA clones in CMV expression vector (see all 2): GLA
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for GLA 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for GLA 

    Genatlas biochemistry entry for GLA:
    galactosidase,alpha

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824 catalytic activity IDA39940
    GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0004557 alpha-galactosidase activity IMP16372133
    GO:0005102 receptor binding IDA1332979
    GO:0005515 protein binding IPI6313412
    About this table

    GLA for ontologies           About GeneDecksing

    Animal Models: 4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gla):

    behavior/neurologicalcellularliver/biliary systemrenal/urinary system

    GLA for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    GLA for pathways           About GeneDecksing

    1 Millipore Pathway for GLA
        Galactose metabolism

    4 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  GLA
        Sphingolipid Metabolism
    Galactose Metabolism
    Glycosphingolipid Biosynthesis - Globoseries
    Glycerolipid Metabolism

    5 Kegg Pathways  (Kegg details for GLA):
        hsa00052 Galactose metabolism
    hsa00561 Glycerolipid metabolism
    hsa00600 Sphingolipid metabolism
    hsa00603 Glycosphingolipid biosynthesis - globo series
    hsa04142 Lysosome

        SABiosciences Pathway-Focused PCR Array including GLA: PAHS-062A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GLA
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLA

    5/22 Interacting proteins for GLA (ENSP000002185163) via UniProtKB, MINT, and/or STRING (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARSAENSP000003484063STRING: ENSP00000348406
    B3GALNT1ENSP000003234793STRING: ENSP00000323479
    GAAENSP000003056923STRING: ENSP00000305692
    GALCENSP000002613043STRING: ENSP00000261304
    GALK1ENSP000003643343STRING: ENSP00000364334
    About this table

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process ----
    GO:0009311 oligosaccharide metabolic process IDA39940
    GO:0045019 negative regulation of nitric oxide biosynthetic process ISS--
    GO:0046477 glycosylceramide catabolic process ISS--
    GO:0046479 glycosphingolipid catabolic process TAS2160973
    About this table

    GLA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    GLA for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GLA
    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Pharmaceutical: Available under the names Replagal (Transkaryotic Therapies) and Fabrazyme (Genzyme). Used as a
    long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease

    10/58 Novoseek chemical compound relationships for GLA gene (see all 58)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramidetrihexoside 88.4 3 1338214 (1), 10697955 (1)
    fabrazyme 87.7 1 18351385 (1)
    glycosphingolipid 83.2 15 14635108 (1), 1315304 (1), 16805371 (1), 19621417 (1) (see all 14)
    melibiose 81.3 11 1835726 (1), 9058977 (1), 17196483 (1), 1711992 (1) (see all 8)
    p-nitrophenyl alpha-d-galactopyranoside 78.6 2 8948456 (1), 8405947 (1)
    raffinose 78.1 14 1835726 (1), 7671975 (1), 9058977 (1), 17196483 (1) (see all 14)
    stachyose 78.1 4 7671975 (1), 18834998 (1), 1651679 (1), 10570815 (1)
    gamma-carboxyglutamic acid 75.9 47 1498334 (6), 8135347 (4), 17347154 (3), 10668405 (3) (see all 11)
    galactose 73.7 33 8386150 (2), 7575533 (2), 15136043 (2), 2106074 (1) (see all 21)
    globotriosylceramide 69.4 2 8039705 (1), 1886355 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GLA
    Sigma-Aldrich shRNA for GLA
    OriGene 29mer shRNA kits in GFP-retroviral vector: GLA
    OriGene shRNA RFP: GLA
    OriGene basic RS shRNA: GLA
    OriGene siRNA: GLA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GLA 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GLA 
    Search SABiosciences for Assays for microRNAs that regulate GLA
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: GLA
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GLA
    OriGene untagged cDNA clones in CMV expression vector (see all 2): GLA
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for GLA 
    Primers: OriGene genome-wide validated SYBR primer pairs: GLA
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GLA: PPH09798A

    REFSEQ mRNAs for GLA gene: 

    NM_000169.2  

    Additional cDNA sequence: 

    AK222627.1 AK291095.1 AK297148.1 BC002689.2 BT006864.1 CR605654.1 CR607242.1 CR617861.1 
    D00039.1 X05790.1 X16889.1 

    13 DOTS entries:

    DT.452710  DT.100882792  DT.121284708  DT.95375140  DT.121284616  DT.100882790  DT.121284614  DT.95311268 
    DT.95375138  DT.101984472  DT.121284594  DT.91812055  DT.95375136 

    24/212 AceView cDNA sequences (see all 212):

    CD365384 CR617861 BU615633 CB528859 BM794851 AW135099 BE280495 BC002689 
    AI971247 CB529027 CD366940 CB529298 CB529984 CR607242 CD367096 CR605654 
    BM975033 CA487531 BU191867 BU681392 CF126942 AW731746 BQ225444 CD365200 

    highest scoring ESTs for GLA:

    AU099399 AU127267 AU279554 AV749455 AW837160 BC002689 BE280495 BE379425 BE410024 BE564625 

    Unigene Cluster for GLA:

    Galactosidase, alpha
    Hs.69089  [show with all ESTs]
    Unigene Representative Sequence: NM_000169


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GLA (see all 8)

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b
    SP1:                                            -     -     -                             -     -                     
    SP2:                                      -     -     -     -                                                         
    SP3:                                            -           -                                                         
    SP4:                                            -     -     -     -                                                   
    SP5:                                            -     -     -                                   -                     

    About this scheme

    ECgene alternative splicing isoforms for GLA
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468823 ENST00000480513 ENST00000486121 ENST00000479445(uc011mrj.1)
    ENST00000493905 ENST00000466414 ENST00000218516(uc004ehl.1)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    GLA expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching GLA gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36833_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U78027 0.20 0.50 0.38 1
    214430_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000169 0.60 1.00 0.82 1
    214430_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    GLA for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    GLA gene expression
    GLA gene electronic northern expression
    GLA gene sage expression
    About these images

    CGAP SAGE TAG: TCTAATGACC

    SOURCE GeneReport for Unigene cluster: Hs.69089

    Expression variation in blood from EXPOLDB for GLA

    Primers: OriGene genome-wide validated SYBR primer pairs: GLA
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GLA: PPH09798A
        SABiosciences Expression via Pathway-Focused PCR Array including GLA: PAHS-062A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for GLA gene from 5/14 species (see all 14)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GLA1   -- galactosidase, alpha 87.29(n)
    83.45(a)
    480988  XM_538109.2  XP_538109.2 
    cow
    (Bos taurus)
    GLA1   -- galactosidase, alpha 86.1(n)
    80.33(a)
    532742  XM_611905.3  XP_611905.2 
    rat
    (Rattus norvegicus)
    Gla1   -- galactosidase, alpha 83.33(n)
    79.19(a)
    363494  XM_343817.3  XP_343818.1 
    mouse
    (Mus musculus)
    Gla1 , 5 X (56.20 cM)5
    galactosidase, alpha1, 5 82.3(n)1
    78.23(a)1
    116051  NM_013463.21  NP_038491.21 
     AK0400815  AK0545475  (see all 21)
    chicken
    (Gallus gallus)
    GLA1   -- galactosidase, alpha 68.31(n)
    69.63(a)
    422188  XM_420183.2  XP_420183.2 
    About this table        Species with no ortholog for GLA

    ENSEMBL Gene Tree for GLA (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for GLA gene
    NAGA2  

    GLA for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/109 NCBI SNPs in GLA are shown (see all 109)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs10234311,2
    C,F100657809(-) GAGATC/AATTGA 1 -- int115Minor allele frequency- A:0.11NS EA NA 834
    rs10234321,2
    --100656877(-) CCCCCA/CGCCTG 1 -- int11Minor allele frequency- C:0.00MN 184
    rs10234331,2
    --100656876(-) CCCCAG/CCCTGG 1 -- int13Minor allele frequency- C:0.00NA EA 252
    rs20712281,2
    C,F,100653109(-) AGCAAC/TCACAC 1 -- int16Minor allele frequency- T:0.35NS EA NA WA 421
    rs20713961,2
    C100655870(-) ctccaG/Ccctgg 1 -- int11Minor allele frequency- C:0.00WA 2
    rs20713971,2
    C,F100653950(-) GAGTCA/GTATCT 1 -- int19Minor allele frequency- G:0.12NS EA NA 733
    rs24738151,2
    --100654665(+) CTATTC/TAACAC 1 -- int10--------
    rs30275881,2
    C,F,100656518(-) GTCACA/GATACT 1 -- int15Minor allele frequency- G:0.03NS EA WA 414
    rs30275891,2
    C,100655586(-) AAACCG/AAGGTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs30275901,2
    C,100654253(-) ATTCCG/ATTAAC 1 -- int11Minor allele frequency- A:0.50WA 2
    About this table

    HapMap Linkage Disequilibrium images for GLA (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GLA: --

    QIAGEN SeqTarget long-range PCR primers for resequencing GLA 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GLA for disorders           About GeneDecksing

    OMIM: 300644   disorders: 301500  

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280

  • Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. FD is a rare X-linked sphingolipidosis
  • disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid
    catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in
    the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin
    lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain
    in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other
    vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show
    corneal opacities

    10/27 Novoseek disease relationships for GLA gene (see all 27)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fabry disease 97 151 10838196 (4), 16151917 (3), 12207598 (3), 18633574 (2) (see all 99)
    lysosomal storage diseases 77.8 7 16287034 (1), 8819626 (1), 15712228 (1), 16298216 (1) (see all 7)
    gangliosidosis gm1 50.7 1 15275696 (1)
    proteinuria 49.8 2 17373218 (1)
    anhidrosis 47 1 8726095 (1)
    leukodystrophy metachromatic 44.1 1 15275696 (1)
    cardiomyopathy 43.8 2 16753138 (1), 16619977 (1)
    renal failure 42.9 1 11841613 (1)
    renal disease 35.4 2 19707461 (1), 18431378 (1)
    tay-sachs disease 35 1 15275696 (1)
    About this table

    2 PharmGKB disease relationships for GLA gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Fabry DiseaseCO  GN  11668641
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    Genatlas disease: GLA
    diffuse angiokeratoderma,Fabry disease,typical and atypical

    GeneTests: GLA
    Fabry Disease

    Locus Specific Mutation Databases (LSDB): GLA
    Human Gene Mutation Database (HGMD): GLA
    Genetic Association Database (GAD): GLA
    Human Genome Epidemiology (HuGE) Navigator: GLA (28 documents)

    Export disorders and mutations for GLA gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/368 PubMed articles for GLA gene, integrated from 7 sources (see all 368):
    (articles sorted by number of sources associating them with GLA)
    1. Fabry disease: 20 novel GLA mutations in 35 families. (PubMed id 11668641)1, 2, 5 Blaydon D.... Winchester B.G. (2001)
    2. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G> ;A). (PubMed id 19621417)1, 2, 7 Hwu W.L....Hsu L.W. (2009)
    3. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. (PubMed id 15776423)1, 4, 7 Schafer E....Gal A. (2005)
    4. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (PubMed id 7626884)1, 2, 7 Oeltjen J.C....Gibbs R.A. (1995)
    5. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PubMed id 15712228)1, 2, 7 Shabbeer J....Desnick R.J. (2005)
    6. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. (PubMed id 7575533)1, 2, 7 Okumiya T....Suzuki Y. (1995)
    7. Identification of a novel de novo mutation (G373D) in the alpha- galactosidase A gene (GLA) in a patient affected with Fabry disease. (PubMed id 11295840)1, 2, 7 Germain D.P.... Poenaru L. (2001)
    8. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. (PubMed id 10208848)1, 2, 7 Germain D.P. and Poenaru L. (1999)
    9. Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion. (PubMed id 7503918)1, 2, 7 Novo F.J.... Gorecki D.C. (1995)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2717 HGNC: 4296 AceView: GLA Ensembl:ENSG00000102393 euGenes: HUgn2717
    ECgene: GLA Kegg: 2717 H-InvDB: GLA

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for GLA gene:
    Search GeneIP for patents involving GLA

    GeneCards and IP:
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