• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GLDC (HGNC:4313) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glycine decarboxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
GCSP, NKH
%HI
30.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
9p24.1
Genomic Coordinates
GRCh37/hg19: chr9:6532467-6645729 NCBI Ensembl UCSC
GRCh38/hg38: chr9:6532467-6645729 NCBI Ensembl UCSC
MANE Select Transcript
NM_000170.3 ENST00000321612.8 (Read more about MANE Select)
Function
The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) 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 (GCSH). {ECO:0000269|PubMed:1993704, ECO:0000269|PubMed:1996985, ECO:0000269|PubMed:28244183}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29573
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/10/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 22171071
    This paper describes variants in glycine cleavage system genes (e.g. GLDC) in patients with neural tube defects (NTD). Multiple rare missense variants in GLDC and one cannonical acceptor site variant in GLDC were observed in the heterozygous state in their NTD cohort and the authors conclude that mutations in GLDC and AMT predispose to NTDs in mice and humans.
HI Evidence Comments:
Many reports of pathogenic variants in GLDC associated with nonketotic hyperglycinemia (aka glycine encephalopathy) and autosomal recessive inheritance.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Some whole gene duplications are present in the Database of Genomic Variants.

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)