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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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IMP	1332979
GO:0005737	cytoplasm	IMP	1332979
GO:0005764	lysosome	TAS	3029062
GO:0005794	Golgi apparatus	IMP	1332979

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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	IDA	39940
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	--
GO:0004557	alpha-galactosidase activity	IMP	16372133
GO:0005102	receptor binding	IDA	1332979
GO:0005515	protein binding	IPI	6313412

About this table

GLA for ontologies About GeneDecksing

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

behavior/neurological

cellular

liver/biliary system

renal/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 Central^TM Interacting Genes and Proteins Network for GLA

5/22 Interacting proteins for GLA (ENSP00000218516³) via UniProtKB, MINT, and/or STRING (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARSA	ENSP00000348406³	STRING: ENSP00000348406
B3GALNT1	ENSP00000323479³	STRING: ENSP00000323479
GAA	ENSP00000305692³	STRING: ENSP00000305692
GALC	ENSP00000261304³	STRING: ENSP00000261304
GALK1	ENSP00000364334³	STRING: ENSP00000364334

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	--	--
GO:0009311	oligosaccharide metabolic process	IDA	39940
GO:0045019	negative regulation of nitric oxide biosynthetic process	ISS	--
GO:0046477	glycosylceramide catabolic process	ISS	--
GO:0046479	glycosphingolipid catabolic process	TAS	2160973

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	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
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

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)	Gla^{1 , 5}	X (56.20 cM)⁵	galactosidase, alpha^{1, 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

SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1023431^1,2	C,F	100657809(-)	`GAGATC/AATTGA`	1	--	int¹		15		NS EA NA	834
rs1023432^1,2	--	100656877(-)	`CCCCCA/CGCCTG`	1	--	int¹		1		MN	184
rs1023433^1,2	--	100656876(-)	`CCCCAG/CCCTGG`	1	--	int¹		3		NA EA	252
rs2071228^1,2	C,F,	100653109(-)	`AGCAAC/TCACAC`	1	--	int¹		6		NS EA NA WA	421
rs2071396^1,2	C	100655870(-)	`ctccaG/Ccctgg`	1	--	int¹		1		WA	2
rs2071397^1,2	C,F	100653950(-)	`GAGTCA/GTATCT`	1	--	int¹		9		NS EA NA	733
rs2473815^1,2	--	100654665(+)	`CTATTC/TAACAC`	1	--	int¹		0	--	--	--	--
rs3027588^1,2	C,F,	100656518(-)	`GTCACA/GATACT`	1	--	int¹		5		NS EA WA	414
rs3027589^1,2	C,	100655586(-)	`AAACCG/AAGGTC`	1	--	int¹		1		WA	2
rs3027590^1,2	C,	100654253(-)	`ATTCCG/ATTAAC`	1	--	int¹		1		WA	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 Disease	CO GN	11668641
Leukemia, Lymphocytic, Acute, L1	FA 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)
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10/368 PubMed articles for GLA gene, integrated from 7 sources (see all 368):
(articles sorted by number of sources associating them with GLA)

Fabry disease: 20 novel GLA mutations in 35 families. (PubMed id 11668641)^{1, 2, 5} Blaydon D.... Winchester B.G. (2001)
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)
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)
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)
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)
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. (PubMed id 7575533)^{1, 2, 7} Okumiya T....Suzuki Y. (1995)
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)
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)
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)
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)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2717	HGNC: 4296	AceView: GLA	Ensembl:ENSG00000102393	euGenes: HUgn2717
ECgene: GLA	Kegg: 2717	H-InvDB: GLA

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLA

Intellectual Property for GLA gene
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Patent Information for GLA gene:
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