GCDH
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GCDH (HGNC:4189) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glutaryl-CoA dehydrogenase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ACAD5, GCD
%HI
60.73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
19p13.13
Genomic Coordinates
GRCh37/hg19: chr19:13001943-13010813 NCBI Ensembl UCSC
GRCh38/hg38: chr19:12891129-12899999 NCBI Ensembl UCSC
MANE Select Transcript
NM_000159.4 ENST00000222214.10 (Read more about MANE Select)
Function
Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L- hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. {ECO:0000269|PubMed:17176108, ECO:0000269|PubMed:6423663, ECO:0000269|PubMed:8541831}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20377
ClinGen Curation ID:
CCID:007197
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • glutaryl-CoA dehydrogenase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)