Gene: GCDH

Alternate names for this Gene: ACAD5|GCD

Gene 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. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: glutaryl-CoA dehydrogenase

Type of Gene: protein-coding

Gene: SYCE2

Alternate names for this Gene: CESC1

Gene Summary: The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: synaptonemal complex central element protein 2

Type of Gene: protein-coding

rs17706531 in GCDH;SYCE2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs741702 in GCDH;SYCE2 gene and Finding of Mean Corpuscular Hemoglobin PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs121434368 in GCDH;SYCE2 gene and Glutaric aciduria, type 1 PMID 24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

PMID 14707522 2003 Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

PMID 18775954 2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 8900227 1996 Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

PMID 9600243 1998 The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

PMID 8900228 1996 Glutaric aciduria type I in the Arab and Jewish communities in Israel.

PMID 17188916 2007 Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27397597 2016 We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population.

PMID 19433275 2009 Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

PMID 21031586 2010 Use of guidelines improves the neurological outcome in glutaric aciduria type I.

PMID 9711871 1998 Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

PMID 24332224 2014 Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

PMID 21176883 2011 Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

PMID 18683078 2008 Glutaric aciduria type I: outcome following detection by newborn screening.

PMID 15505393 2004 Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

PMID 22728054 2012 Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

PMID 19433437 2009 Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

PMID 20978942 2011 Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

PMID 11073722 2000 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

PMID 22106832 2012 Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

PMID 28438223 2017 Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

PMID 28352331 2017 Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

PMID 25204480 2014 Molecular determination of glutaric aciduria type I in individuals from southwest Iran.

PMID 20732827 2011 Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

PMID 10649503 2000 Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.

rs17706531 in GCDH;SYCE2 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.