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GLDC Gene

protein-coding   GIFtS: 63

GC09M006522
glycine dehydrogenase (decarboxylating)
(Previous names: glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) )
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
glycine dehydrogenase (decarboxylating)1 2     MGC1382002
GCSP1 2 3 5     glycine decarboxylase P-protein2
Glycine cleavage system P protein2 3     glycine cleavage system protein P2
NKH1 5     MGC1381982
HYGN12 5     glycine dehydrogenase [decarboxylating], mitochondrial2
GCE2 5     Glycine decarboxylase3
glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage
system protein P)1
     EC 1.4.4.23

External Ids:    HGNC: 43131   Entrez Gene: 27312   Ensembl: ENSG000001784457   UniProtKB: P233783   

Export aliases for GLDC gene to outside databases

Previous GC identifers: GC09M006686 GC09M006513


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

Entrez Gene summary for GLDC:
Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein
components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing
protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein
encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be
transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).

UniProtKB/Swiss-Prot: GCSP_HUMAN, P23378
Function: The glycine cleavage system catalyzes the degradation of glycine. The P protein binds the alpha-amino group
of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then
transferred to the lipoamide cofactor of the H protein

Gene Wiki entry for GLDC

(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 GLDC gene promoter:
         TGIF   POU3F2   FAC1   c-Myb   POU2F1   GATA-3   GATA-1   NRSF form 2   NRSF form 1   GATA-2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GLDC

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


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

Entrez Gene cytogenetic band: 9p22   Ensembl cytogenetic band:  9p24.1   HGNC cytogenetic band: 9p22

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

GeneLoc gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M006522:  view genomic region     (about GC identifiers)

Start:
6,487,440 bp from pter
End:
6,645,650 bp from pter
Size:
158,211 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  

(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: GCSP_HUMAN, P23378 (See protein sequence)
Recommended Name: Glycine dehydrogenase [decarboxylating], mitochondrial precursor  
Size: 1020 amino acids; 112730 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. The glycine cleavage system is composed of four proteins: P, T, L and H
Subcellular location: Mitochondrion
Secondary accessions: Q2M2F8

Explore the universe of human proteins at neXtProt for GLDC: NX_P23378 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000161.2  

    ENSEMBL proteins: 
    ENSP00000370737 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for GLDC 
    Novus Biologicals Protein for GLDC
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IEA--
    About this table

    GLDC for ontologies           About GeneDecksing



    Antibodies for GLDC: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for GLDC
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for GLDC 
    Novus Biologicals Antibody for GLDC
    Epitomics antibodies for GLDC

    Assays for GLDC: 
    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 GLDC 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GLDC 


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

    GLDC for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR020581 GDC_P
     IPR001597 ArAA_b-elim_lyase/Thr_aldolase
     IPR020580 GDC-P_N
     IPR003437 GDC_P_homo
     IPR015424 PyrdxlP-dep_Trfase_major_dom

    Graphical View of Domain Structure for InterPro Entry P23378

    ProtoNet protein and cluster: P23378

    1 Blocks protein family: IPB003437 Glycine cleavage system P-protein

    UniProtKB/Swiss-Prot: GCSP_HUMAN, P23378
    Similarity: Belongs to the gcvP 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: GCSP_HUMAN, P23378
    Function: The glycine cleavage system catalyzes the degradation of glycine. The P protein binds the alpha-amino group
    of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then
    transferred to the lipoamide cofactor of the H protein
    Catalytic activity: Glycine + H-protein-lipoyllysine = H-protein-S-aminomethyldihydrolipoyllysine + CO(2)
    Enzyme Number (IUBMB): EC 1.4.4.2 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and siRNA for GLDC
    Sigma-Aldrich shRNA for GLDC
    OriGene 29mer shRNA kits in GFP-retroviral vector: GLDC
    OriGene shRNA RFP: GLDC
    OriGene basic RS shRNA: GLDC
    OriGene siRNA: GLDC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GLDC 
    miRNA:Sigma-Aldrich microRNA Mimics for GLDC
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GLDC 
    5 SABiosciences Assays for microRNAs that regulate GLDC:
    hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-30e

    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: GLDC
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GLDC
    OriGene untagged cDNA clones in CMV expression vector: GLDC
    OriGene 3'-UTR clone: GLDC 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for GLDC 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for GLDC 

    Genatlas biochemistry entry for GLDC:
    glycine decarboxylase pyridoxal-phosphate dependent 120kDa,P protein,catalyzing the first step of the glycine cleavage
    system

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004375 glycine dehydrogenase (decarboxylating) activity IEA--
    GO:0009055 electron carrier activity TAS2268343
    GO:0016491 oxidoreductase activity IEA--
    GO:0016829 lyase activity IEA--
    GO:0030170 pyridoxal phosphate binding IEA--
    About this table

    GLDC for ontologies           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


    GLDC for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  GLDC
        Glycine, Serine and Threonine Metabolism

    2 Kegg Pathways  (Kegg details for GLDC):
        hsa00260 Glycine, serine and threonine metabolism
    hsa01100 Metabolic pathways

        SABiosciences Custom Pathway-Focused PCR Arrays for GLDC 

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

    5/234 Interacting proteins for GLDC (P233782) via UniProtKB, MINT, and/or STRING (see all 234)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520 cellular amino acid metabolic process IEA--
    GO:0006544 glycine metabolic process ----
    GO:0006546 glycine catabolic process TAS1996985
    GO:0055114 oxidation-reduction process IEA--
    About this table

    GLDC 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

    GLDC for compounds           About GeneDecksing

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

    Browse Tocris compounds for GLDC
    9 Novoseek chemical compound relationships for GLDC gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    saci 66.7 2 1943691 (1), 1671321 (1)
    dihydrolipoamide 63.5 1 15946682 (1)
    alpha lipoic acid 61.3 1 11286922 (1)
    tetrahydrofolate 60 1 11286922 (1)
    polyglycolic acid 54.6 2 16358787 (1), 10375564 (1)
    methionine 40.7 1 15864413 (1)
    nitrate 24.7 2 11514514 (1), 15207493 (1)
    carbon 3.37 2 8647275 (2)
    fatty acid 0 1 15207493 (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 siRNA for GLDC
    Sigma-Aldrich shRNA for GLDC
    OriGene 29mer shRNA kits in GFP-retroviral vector: GLDC
    OriGene shRNA RFP: GLDC
    OriGene basic RS shRNA: GLDC
    OriGene siRNA: GLDC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GLDC 
    miRNA: Sigma-Aldrich microRNA Mimics for GLDC
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GLDC 
    5 SABiosciences Assays for microRNAs that regulate GLDC:
    hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-30e
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: GLDC
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GLDC
    OriGene untagged cDNA clones in CMV expression vector: GLDC
    OriGene 3'-UTR Clone: GLDC 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for GLDC 
    Primers: OriGene genome-wide validated SYBR primer pairs: GLDC
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GLDC: PPH12731A

    REFSEQ mRNAs for GLDC gene: 

    NM_000170.2  

    Additional cDNA sequence: 

    AK308470.1 AK310534.1 AK314156.1 BC111993.1 BC111995.1 D90239.1 M63635.1 M64590.1 

    9 DOTS entries:

    DT.213965  DT.95357371  DT.121229099  DT.75176923  DT.97808198  DT.95163593  DT.101973864  DT.40105780 
    DT.121194184 

    24/107 AceView cDNA sequences (see all 107):

    BX094481 AV659118 AU124921 BF685886 AU130455 CB161786 AV654845 R94124 
    AW241569 BM556699 BG675043 F05755 AW593954 AI625793 AI632186 BI006823 
    BE741491 AI917808 AW204796 AI480370 BE542432 AI356645 AA305450 AU125752 

    highest scoring ESTs for GLDC:

    D90239 AI808105 AU098901 BE280944 M64590 AA305450 AA344405 AA350657 AA580613 AA931073 

    Unigene Cluster for GLDC:

    Glycine dehydrogenase (decarboxylating)
    Hs.584238  [show with all ESTs]
    Unigene Representative Sequence: NM_000170


    GeneLoc Exon Structure

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467946 ENST00000477960 ENST00000463305 ENST00000321612(uc003zkc.2)
    ENST00000460457

    (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

    GLDC expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching GLDC gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35192_at2, 3 U95-A 1 0.69 1.00 1.00 1.00 D90239 1.00 1.00 1.00 1
    204836_at2, 3 U133-A 1 0.64 1.00 -- -- NM_000170 0.60 1.00 0.82 1
    204836_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    About this table

    GLDC for expression           About GeneDecksing

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

    CGAP SAGE TAG: TGGACTGTGC

    SOURCE GeneReport for Unigene cluster: Hs.584238

    Expression variation in blood from EXPOLDB for GLDC

    Primers: OriGene genome-wide validated SYBR primer pairs: GLDC
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GLDC: PPH12731A
        SABiosciences Custom PCR Arrays for GLDC 


    (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 GLDC gene from 5/26 species (see all 26)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GLDC1   -- glycine dehydrogenase (decarboxylating) 90.76(n)
    94(a)
    481534  XM_538655.2  XP_538655.2 
    chimpanzee
    (Pan troglodytes)
    GLDC1   -- glycine dehydrogenase (decarboxylating) 99.51(n)
    99.51(a)
    464987  XM_001143144.1  XP_001143144.1 
    cow
    (Bos taurus)
    GLDC1   -- glycine dehydrogenase (decarboxylating) 89.74(n)
    93.73(a)
    507688  XM_864146.2  XP_869239.2 
    rat
    (Rattus norvegicus)
    Gldc1   -- glycine dehydrogenase (decarboxylating) 87.35(n)
    92.84(a)
    309312  XM_219785.4  XP_219785.3 
    mouse
    (Mus musculus)
    Gldc1 , 5 19 (24.87 cM)5
    glycine decarboxylase1, 5 86.8(n)1
    92.45(a)1
    1041741  NM_138595.11  NP_613061.11 
     AA4097565  AI1947965  (see all 14)
    About this table        Species with no ortholog for GLDC

    ENSEMBL Gene Tree for GLDC (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (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

    10/1505 NCBI SNPs in GLDC are shown (see all 1505)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs9283931,2
    C,A6542674(-) tcctgA/Ggctca 1 -- int15Minor allele frequency- G:0.30NA WA 10
    rs9348541,2
    C,F,O,6631611(+) TTGAAA/GTGAGA 1 -- int119Minor allele frequency- G:0.45NS EA NA WA 1434
    rs9348551,2
    C,F,6631702(+) AGAAGT/GGAAGA 1 -- int1 trp37Minor allele frequency- G:0.45NS EA NA 582
    rs9681961,2
    C,F,A,H,6586788(+) aggttC/Gggcca 1 -- int111Minor allele frequency- G:0.38NS EA NA WA 498
    rs9681971,2
    C,F,A,H,6587054(+) acaaaA/Taagtt 1 -- int110Minor allele frequency- T:0.17EA NA WA 1716
    rs9681981,2
    H6587066(+) TTGTTC/TTAAGC 1 -- int14Minor allele frequency- T:0.00NS EA 394
    rs10201081,2
    C,F,H,6639747(+) gaccaT/Cattta 1 -- int16Minor allele frequency- C:0.36NA EA WA 168
    rs10201091,2
    --6639944(+) ataacA/Tgatag 1 -- int10--------
    rs10257201,2
    C,F,A,H,6632543(+) TATCCG/ATACAT 1 -- int116Minor allele frequency- A:0.20NA EA NS 1254
    rs10257211,2
    C,F,A,6632716(+) TGAGGC/TGGGTC 1 -- int18Minor allele frequency- T:0.36NA EA WA 350
    About this table

    HapMap Linkage Disequilibrium images for GLDC (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GLDC
         2 CNVs: 3757 8620

    QIAGEN SeqTarget long-range PCR primers for resequencing GLDC 

    (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

    GLDC for disorders           About GeneDecksing

    OMIM: 238300   disorders: 605899  

    UniProtKB/Swiss-Prot: GCSP_HUMAN, P23378

  • Defects in GLDC are a cause of non-ketotic hyperglycinemia (NKH) [MIM:605899]; also known as glycine
  • encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine
    in body fluid and by severe neurological symptoms

    5 Novoseek disease relationships for GLDC gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperglycinemia nonketotic 95.5 12 10798358 (2), 15851735 (2), 16601880 (1), 2268343 (1) (see all 10)
    hyperglycinemia 94.9 5 1943691 (1), 12402263 (1), 15824356 (1), 18581728 (1)
    mental retardation 15.9 2 15824356 (1)
    tuberculosis 6.07 1 7698116 (1)
    shock 0 1 15295627 (1)
    About this table

    1 PharmGKB disease relationship for GLDC gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    About this table

    GeneTests: GLDC
    Glycine Encephalopathy

    Human Gene Mutation Database (HGMD): GLDC
    Human Genome Epidemiology (HuGE) Navigator: GLDC (2 documents)

    Export disorders and mutations for GLDC 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

    10/63 PubMed articles for GLDC gene, integrated from 7 sources (see all 63):
    (articles sorted by number of sources associating them with GLDC)
    1. The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures. (PubMed id 1993704)1, 2, 3, 7 Kume A.... Hiraga K. (1991)
    2. Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. (PubMed id 1996985)1, 2, 3, 7 Kure S....Tada K. (1991)
    3. Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). (PubMed id 11286506)1, 2, 7 Toone J.R.... James E.R. (2001)
    4. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. (PubMed id 11592811)1, 2 Applegarth D.A. and Toone J.R. (2001)
    5. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. (PubMed id 1634607)1, 2 Kure S.... Leisti J. (1992)
    6. Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. (PubMed id 10798358)1, 7 Takayanagi M....Narisawa K. (2000)
    7. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PubMed id 16450403)1, 7 Kure S....Matsubara Y. (2006)
    8. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. (PubMed id 15851735)1, 7 Flusser H....Kure S. (2005)
    9. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. (PubMed id 16601880)1, 7 Conter C....Froissart R. (2006)
    10. Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. (PubMed id 15824356)1, 7 Dinopoulos A....Degrauw T. (2005)

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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: 2731 HGNC: 4313 AceView: GLDC Ensembl:ENSG00000178445 euGenes: HUgn2731
    ECgene: GLDC Kegg: 2731 H-InvDB: GLDC

    (According to HUGE)
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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