GLDC (glycine decarboxylase)

2012-03-01  

Identity

HGNC
LOCATION
9p24.1
LOCUSID
ALIAS
GCE,GCSP,HYGN1
FUSION GENES

Other Information

Locus ID:

NCBI: 2731
MIM: 238300
HGNC: 4313
Ensembl: ENSG00000178445

Variants:

dbSNP: 2731
ClinVar: 2731
TCGA: ENSG00000178445
COSMIC: GLDC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178445ENST00000321612P23378
ENSG00000178445ENST00000463305A0A1W2PPK8
ENSG00000178445ENST00000638274A0A1W2PPD7
ENSG00000178445ENST00000638654A0A1W2PPE1
ENSG00000178445ENST00000638661A0A1W2PP74
ENSG00000178445ENST00000639020A0A1W2PPG0
ENSG00000178445ENST00000639318A0A1W2PQV3
ENSG00000178445ENST00000639639A0A1W2PPB1
ENSG00000178445ENST00000639840A0A1W2PPH6
ENSG00000178445ENST00000640208A0A1W2PQU6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glyoxylate and dicarboxylate metabolismKEGGko00630
Glycine, serine and threonine metabolismKEGGhsa00260
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661
Glycine degradationREACTOMER-HSA-6783984

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10074escitalopramChemicalClinicalAnnotationassociatedPD21107318
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD21107318
PA449015citalopramChemicalClinicalAnnotationassociatedPD21107318

References

Pubmed IDYearTitleCitations
222256122012Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis.241
221710712012Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.44
164504032006Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
173610082007Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.13
273629132017The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.12
164047482006Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.10
280629182017Glycine decarboxylase and HIF-1α expression are negative prognostic factors in primary resected early-stage non-small cell lung cancer.9
166018802006Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.8
252313682014Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.7

Citation

Dessen P

GLDC (glycine decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52629/gldc