GCDH

glutaryl-CoA dehydrogenase

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. [provided by RefSeq, Mar 2013]

Known Variants677 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1108582419:13,001,547A/Gregulatory region variant—
rs95095552119:13,001,982T/C—uncertain significance
rs77832905119:13,002,001C/T—uncertain significance
rs88605424019:13,002,002G/A—uncertain significance
rs95225714419:13,002,004G/A—uncertain significance
rs54559492419:13,002,016G/A—conflicting classifications of pathogenicity
rs99087115519:13,002,019A/G—likely benign
rs88605424119:13,002,025G/A—uncertain significance
rs725183419:13,002,033A/G—benign
rs105609040119:13,002,035C/T—likely benign
rs36771560119:13,002,074C/A—uncertain significance
rs37146466619:13,002,115G/C—uncertain significance
rs119742664519:13,002,119A/G—pathogenic
rs123036810719:13,002,121G/A—likely pathogenic
rs197054816919:13,002,124C/T—likely benign
rs251256340119:13,002,125C/T—likely benign
rs214593821019:13,002,133C/A—likely benign
rs141774283819:13,002,147T/C—uncertain significance
rs55010064019:13,002,156G/A—conflicting classifications of pathogenicity
rs89192039019:13,002,160A/T—likely benign
rs214593833519:13,002,163C/T—likely benign
rs143685088319:13,002,166C/G—likely benign
rs129514190419:13,002,167C/G—uncertain significance
rs77270646219:13,002,169G/A—likely benign
rs74745908219:13,002,172C/T—likely benign
rs121192445019:13,002,175C/A—likely benign
rs197055125319:13,002,181C/T—likely benign
rs99791992319:13,002,192C/T—uncertain significance
rs147531607019:13,002,193G/T—likely benign
rs37674768319:13,002,196G/C—likely benign
rs20052086519:13,002,198C/T—uncertain significance
rs77340702019:13,002,199G/T—likely benign
rs75145406619:13,002,202G/A—likely benign
rs87885315519:13,002,205G/A—benign
rs137407263019:13,002,209G/T—pathogenic
rs214593861319:13,002,217T/A—likely benign
rs144854326519:13,002,221G/A—likely benign
rs76743959819:13,002,223C/A—likely benign
rs197055283819:13,002,224G/T—likely benign
rs56401636719:13,002,255G/T—likely benign
rs37612494719:13,002,283C/T—likely benign
rs197055472919:13,002,285C/T—likely benign
rs77011115419:13,002,286G/T—likely benign
rs18566132319:13,002,287T/C—likely benign
rs197055507119:13,002,291G/A—likely benign
rs214593881619:13,002,293G/C—likely benign
rs53822097519:13,002,294C/T—conflicting classifications of pathogenicity
rs197055516619:13,002,297G/A—likely benign
rs251256386919:13,002,308C/A—likely benign
rs77094272219:13,002,311G/A—likely benign
rs251256389219:13,002,317A/G—likely benign
rs251256389419:13,002,318C/T—pathogenic
rs75959944219:13,002,319A/G—uncertain significance
rs76753565119:13,002,323C/A—uncertain significance
rs159960685719:13,002,325A/C—uncertain significance
rs75260931419:13,002,326A/G—likely benign
rs214593889219:13,002,329G/A—likely benign
rs117351359719:13,002,331C/T—uncertain significance
rs214593890619:13,002,332T/C—likely benign
rs125214822519:13,002,333A/T—likely pathogenic
rs147333958919:13,002,337G/A—pathogenic
rs37100748519:13,002,344C/T—likely benign
rs14256844519:13,002,345C/T—likely benign
rs57824274619:13,002,352C/T—likely benign
rs251256399619:13,002,354C/T—likely benign
rs139329557319:13,002,356C/T—likely benign
rs374564719:13,002,384T/C—benign
rs179991819:13,002,400G/C—benign
rs224251719:13,002,563T/G—benign
rs7665085519:13,002,566G/T—benign
rs147494968619:13,002,640C/T—likely benign
rs14467809419:13,002,646C/T—likely benign
rs142288940019:13,002,650C/A—uncertain significance
rs140342955319:13,002,655C/T—likely benign
rs75864699219:13,002,665T/G—pathogenic
rs197056410719:13,002,666G/A—pathogenic
rs197056414919:13,002,667G/C—pathogenic
rs122849225519:13,002,673C/T—likely benign
rs76853262019:13,002,674C/T—pathogenic
rs251256483119:13,002,675C/T—likely pathogenic
rs251256484919:13,002,678T/C—uncertain significance
rs126503022519:13,002,684T/C—conflicting classifications of pathogenicity
rs251256487219:13,002,685G/T—likely benign
rs77664357619:13,002,686G/A—conflicting classifications of pathogenicity
rs251256488519:13,002,688G/A—likely benign
rs100615031719:13,002,689G/Tstop gainedpathogenic
rs251256490419:13,002,692C/T—likely pathogenic
rs251256491419:13,002,695C/A—uncertain significance
rs197056531019:13,002,706T/C—likely benign
rs155574923919:13,002,709G/T—pathogenic
rs127558913019:13,002,710A/C—uncertain significance
rs76264020519:13,002,713C/T—uncertain significance
rs132024143419:13,002,715C/T—likely benign
rs105751708819:13,002,715——pathogenic
rs141738911119:13,002,720G/C—conflicting classifications of pathogenicity
rs95681278419:13,002,721G/C—likely pathogenic
rs75212359419:13,002,724C/T—likely benign
rs77053741219:13,002,726C/A—conflicting classifications of pathogenicity
rs75907615719:13,002,732G/A—uncertain significance
rs197056652719:13,002,733C/T—likely benign

Showing 100 of 677 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.