• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GCSH (HGNC:4208) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glycine cleavage system protein H
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
36.73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.42(Read more about gnomAD LOEUF score)
Cytoband
16q23.2
Genomic Coordinates
GRCh37/hg19: chr16:81115550-81130000 NCBI Ensembl UCSC
GRCh38/hg38: chr16:81081945-81096395 NCBI Ensembl UCSC
MANE Select Transcript
NM_004483.5 ENST00000315467.9 (Read more about MANE Select)
Function
The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Has a pivotal role in the lipoylation of enzymes involved in cellular energetics such as the mitochondrial dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex (DLAT), and the mitochondrial dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase com... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20947
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)