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

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

rs3115524 in SYCE2;GCDH gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9384 in SYCE2;GCDH gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs8012 in SYCE2;GCDH gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs121434367 in SYCE2;GCDH gene and Glutaric aciduria, type 1 PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 19630565 2009 Genetics, medicine, and the Plain people.

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

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

PMID 1951469 1991 Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

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

PMID 18926513 2008 Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

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 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 24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

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

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

PMID 17478444 2007 Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.

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 25256449 2015 Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

PMID 10960496 2000 Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

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.

PMID 28794906 2017 We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients.

PMID 18775954 2008 We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells.

PMID 25762492 2015 Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

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

PMID 10699052 2000 The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.

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

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 9881681 1998 Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I.

PMID 21912879 2012 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

PMID 9266361 1997 Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

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

PMID 18775954 2008 We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells.

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

PMID 16466958 2006 Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD.

PMID 27672653 2019 Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.

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

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

PMID 11058907 2000 Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

PMID 15318278 2004 Genetic and biochemical study in a patient with glutaric acidemia type I.

PMID 12210585 2002 Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.

PMID 18411069 2008 Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.

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

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

PMID 17622945 2007 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

PMID 28302372 2017 Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

PMID 11508549 2000 Atypical and variable clinical presentation of glutaric aciduria type I.

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

rs8012 in SYCE2;GCDH gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3115524 in SYCE2;GCDH gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.