ACADSB

acyl-CoA dehydrogenase short/branched chain

Summary

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

Known Variants267 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7283975510:124,768,423A/G—likely benign
rs128333322410:124,768,437A/T—uncertain significance
rs19014974610:124,768,439G/A—benign
rs88604677510:124,768,444G/C—uncertain significance
rs14832703410:124,768,449C/T—benign
rs14144330810:124,768,457G/T—benign
rs15085022110:124,768,459G/T—benign
rs92786658910:124,768,502G/T—uncertain significance
rs88604677610:124,768,507G/A—uncertain significance
rs89518597010:124,768,518G/T—uncertain significance
rs56347282310:124,768,524A/G—uncertain significance
rs75098625710:124,768,527G/C—uncertain significance
rs184995123910:124,768,546A/T—uncertain significance
rs118162623410:124,768,551G/A—likely benign
rs77896592010:124,768,553G/A—uncertain significance
rs213344539710:124,768,558G/A—uncertain significance
rs117995782910:124,768,565G/T—uncertain significance
rs1226301210:124,768,583G/A—benign
rs90140255910:124,768,584G/C—uncertain significance
rs74586304710:124,768,587G/T—uncertain significance
rs1222068310:124,768,899G/C—benign
rs11532734810:124,771,529C/Gupstream gene variant—
rs498024510:124,793,597A/G—benign
rs56449702710:124,793,874A/C—benign
rs14956217810:124,793,896T/G—uncertain significance
rs185036940510:124,793,908A/G—uncertain significance
rs5732169810:124,793,921A/G—benign
rs75172280510:124,793,924T/A—uncertain significance
rs116458601210:124,793,983G/A—uncertain significance
rs15002232310:124,793,986C/T—uncertain significance
rs137014586510:124,793,988C/T—likely benign
rs3422106710:124,793,997A/G—benign
rs137552038410:124,794,005A/G—uncertain significance
rs14489421810:124,794,031G/T—uncertain significance
rs76452410410:124,794,032G/C—likely pathogenic
rs249364142510:124,794,034A/C—uncertain significance
rs5721392710:124,794,329C/T—benign
rs11645868510:124,796,430C/Tintron variant—
rs7480897110:124,796,969C/A—benign
rs498017510:124,796,990A/G—benign
rs75625685110:124,797,279G/A—conflicting classifications of pathogenicity
rs75268662510:124,797,292C/A—uncertain significance
rs74548190310:124,797,320C/T—uncertain significance
rs36959046610:124,797,321G/A—likely benign
rs37253785910:124,797,325A/G—uncertain significance
rs74987813910:124,797,335C/G—pathogenic
rs76079128710:124,797,355C/Tstop gainedpathogenic
rs14793669610:124,797,364G/Asplice region variantpathogenic
rs134548068810:124,797,366A/G—pathogenic
rs76289589210:124,797,368A/G—uncertain significance
rs498024610:124,797,488A/C—benign
rs1159988510:124,797,507A/C—benign
rs1159722910:124,797,523G/A—benign
rs791306310:124,798,683A/G——
rs156475138210:124,800,012G/A—uncertain significance
rs249364881110:124,800,014A/G—likely benign
rs11190224310:124,800,047C/T—likely benign
rs37521736810:124,800,048G/C—uncertain significance
rs249364888710:124,800,054G/C—uncertain significance
rs75350843110:124,800,099A/C—uncertain significance
rs74875450710:124,800,104G/A—likely benign
rs88604677710:124,800,107C/T—uncertain significance
rs249364898810:124,800,114A/T—uncertain significance
rs74729186510:124,800,117A/T—conflicting classifications of pathogenicity
rs5863932210:124,800,121C/Tmissense variantpathogenic
rs14074710210:124,800,130G/A—conflicting classifications of pathogenicity
rs18608110110:124,800,174C/G—uncertain significance
rs77308997110:124,800,201G/C—likely benign
rs7957375910:124,800,463C/T—benign
rs13830940910:124,800,519T/G—likely benign
rs76874904310:124,800,717A/G—likely benign
rs77307124210:124,800,719A/G—likely benign
rs134373795910:124,800,726T/G—uncertain significance
rs75228741310:124,800,755G/A—uncertain significance
rs126616591210:124,800,756C/T—uncertain significance
rs88604677810:124,800,758G/T—uncertain significance
rs76241461210:124,800,769A/G—likely benign
rs75072902010:124,800,811T/C—likely benign
rs36883448910:124,800,817C/G—likely benign
rs74950402210:124,800,819A/G—uncertain significance
rs37442025310:124,800,835G/A—pathogenic
rs114059110:124,800,853T/C—benign
rs14552958910:124,800,854G/T—uncertain significance
rs55373039110:124,800,869G/A—pathogenic
rs75081894810:124,800,883A/G—likely benign
rs77093334710:124,800,889T/C—conflicting classifications of pathogenicity
rs75515800710:124,800,894T/C—uncertain significance
rs74818584910:124,800,909C/T—conflicting classifications of pathogenicity
rs185049139710:124,802,213C/A—uncertain significance
rs5908061310:124,802,223G/A—benign
rs7732208610:124,802,425A/G—likely benign
rs14277855210:124,802,542G/A—likely benign
rs88604677910:124,802,555T/C—uncertain significance
rs75601551610:124,802,590T/C—uncertain significance
rs14373604910:124,802,605C/T—uncertain significance
rs14811478810:124,802,606G/A—benign
rs76109838410:124,802,613C/T—uncertain significance
rs76685594310:124,802,616A/G—uncertain significance
rs77688875610:124,802,637T/C—likely benign
rs13785264910:124,802,643C/Tmissense variantpathogenic

Showing 100 of 267 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.