glutaryl-Coenzyme A dehydrogenase (GCDH)
Name: GCDH
Description: glutaryl-Coenzyme A dehydrogenase
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 19
GeneticSource: genomic
MapLocation: 19p13.2
OtherAliases: ACAD5, GCD
OtherDesignations: glutaryl-CoA dehydrogenase, mitochondrial
NomenclatureSymbol: GCDH
NomenclatureName: glutaryl-Coenzyme A dehydrogenase
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 9364
Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It 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. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]
ChrSort: 19
ChrStart: 13001973
UniProtein db: GCDH UniProt protein knowledge database
Ensembl db: GCDH Ensembl genome database
The GCDH gene is also known by other names, listed below. What is the normal function of the GCDH gene? ... glutaric acidemia type I - caused by mutations in the GCDH gene ...
Complete information for GCDH gene (protein-coding), glutaryl-Coenzyme A dehydrogenase
GCDH. GA1 is a rare disorder affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by mutations in the GCDH gene. ...
resulting from glutaryl-CoA dehydrogenase (GCDH) deficiency. ... GCDH gene with the majority being missense changes. Relatively fewer nonsense, splice ...
References. These sources were used to develop the Genetics Home Reference gene summary on the GCDH gene. ... analysis of the GCDH gene in Italian and Portuguese patients with ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
[GCDH] The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. ... Alternative mRNA variants and regulation: The gene contains 23 different gt-ag introns. ...
Gene targeting vector for disruption of the Gcdh gene. Approximately ... The gene targeting vector used to disrupt the mouse Gcdh gene inserted the nlacF ...
Gene expression in the mouse brain for the gene Gcdh, also known as 'glutaryl-Coenzyme A dehydrogenase'
Full gene analysis is appropriate for the following indications: ... the GCDH gene generally detected by the Ambry Test: Glutaric Acidemia Type 1 except as ...
Taql polymorphism in intron 2 of the GCDH gene. J.C. Haworth, R. Singal, S.I. Goodman, and C.R. Greenberg. You have reached the most complete version ...
An increasing number of gene tests are becoming available. ... SIX3, SHH, ZIC2 gene. Metabolism disorders: Adrenoleukodystrophy/ALD, ABCD1 gene. GCDH gene ...
hydroxyglutaric acids in urine, GCDH gene mutation analysis, and enzyme analysis. ... The GCDH gene is localized on chromosome 19p13.2 and encodes an FAD-dependent mitochondrial ...
We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I)
Full gene sequence analysis for GCDH is useful to identify the spectrum of ... Acidemia Type I, which is a full gene sequence test analyzing the GCDH ...