GLDC |
- 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:
- glycine encephalopathy Monarch
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)