ACACA

acetyl-CoA carboxylase alpha

Summary

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants242 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77387705317:35,444,285C/T—uncertain significance
rs13788399017:35,444,323C/G—likely benign
rs74901457117:35,444,360T/C—uncertain significance
rs19968065617:35,445,853G/A—benign
rs75852198717:35,445,861C/T—likely benign
rs56060866217:35,445,862G/A—likely benign
rs19976751817:35,445,887G/A—benign
rs77157656217:35,445,893G/A—likely benign
rs116133604717:35,445,932C/T—likely benign
rs14160850917:35,445,977C/T—benign
rs14635132617:35,445,978G/A—uncertain significance
rs144545244917:35,453,943T/C—likely benign
rs132865745517:35,453,946C/T—likely benign
rs13963474217:35,454,010T/C—uncertain significance
rs207304383317:35,454,083T/A—uncertain significance
rs127313871717:35,454,791G/A—uncertain significance
rs77244178417:35,454,803C/T—uncertain significance
rs254460835317:35,454,844G/T—pathogenic
rs14858624517:35,454,851G/A—likely benign
rs14996755017:35,454,892C/T—uncertain significance
rs76596936117:35,454,893G/A—uncertain significance
rs75449057117:35,454,908G/C—uncertain significance
rs37040263117:35,454,909C/T—likely benign
rs19987362517:35,454,919C/T—uncertain significance
rs126617517:35,468,050A/T——
rs54203752517:35,468,497G/A—likely benign
rs77816895017:35,468,505G/A—uncertain significance
rs254481014517:35,468,548T/C—likely benign
rs77200612517:35,468,591G/T—likely benign
rs37363284617:35,470,017C/A—uncertain significance
rs5581141417:35,470,031T/G—benign
rs98128141917:35,470,033G/A—uncertain significance
rs119394631617:35,470,114G/C—uncertain significance
rs37255915817:35,470,193G/A—likely benign
rs18420920517:35,470,206G/A—likely benign
rs36924405017:35,470,216C/A—likely benign
rs77071191217:35,478,338G/A—likely benign
rs254494195617:35,478,341G/A—likely benign
rs147045217:35,478,362T/G—uncertain significance
rs77367850317:35,478,363G/A—uncertain significance
rs254496031317:35,479,552G/A—uncertain significance
rs76195714617:35,479,563A/G—likely benign
rs207474827317:35,482,612C/T—likely benign
rs14695336617:35,482,627A/G—likely benign
rs254499770917:35,482,631A/G—uncertain significance
rs77149555817:35,482,636C/G—likely benign
rs155555320017:35,482,640G/A—uncertain significance
rs1784878117:35,482,728A/G—benign
rs75693144717:35,486,360T/A—uncertain significance
rs76517953817:35,486,431G/A—likely benign
rs254505885817:35,487,087G/A—uncertain significance
rs15007592017:35,487,116T/C—uncertain significance
rs207502154717:35,487,124G/A—likely benign
rs76041528217:35,487,127C/G—likely benign
rs75340450517:35,487,134C/T—uncertain significance
rs99654121017:35,487,138C/T—uncertain significance
rs11296690017:35,487,139G/A—likely benign
rs100957894717:35,487,149A/C—likely benign
rs254530786517:35,506,769C/T—likely benign
rs37294089417:35,506,775C/T—likely benign
rs77312680017:35,506,778A/G—likely benign
rs121059321717:35,506,802C/T—uncertain significance
rs254530840517:35,506,805C/T—uncertain significance
rs75898021617:35,506,889G/A—uncertain significance
rs77799240317:35,506,893C/T—likely benign
rs75197118717:35,506,894G/A—uncertain significance
rs78159944317:35,506,908G/C—likely benign
rs20199154717:35,508,301G/C—likely benign
rs20153268117:35,512,585T/C—benign
rs76662860517:35,512,591A/G—likely benign
rs74691359217:35,512,628G/A—likely benign
rs104174006617:35,512,660C/T—uncertain significance
rs141110516317:35,512,695C/G—uncertain significance
rs76929335817:35,512,700T/C—likely benign
rs7882938617:35,512,713C/T—benign
rs117302942317:35,518,685T/C—likely benign
rs77873808717:35,518,760C/T—uncertain significance
rs55153477317:35,518,842C/T—likely benign
rs254545839917:35,518,870A/G—uncertain significance
rs143539208217:35,518,910G/A—uncertain significance
rs37263762517:35,518,923T/C—likely benign
rs990654317:35,519,222C/Tupstream gene variant—
rs117197548717:35,536,241C/T—uncertain significance
rs76511881117:35,536,260G/T—uncertain significance
rs75806278317:35,536,273C/T—likely benign
rs20144247317:35,536,279G/A—likely benign
rs54027471517:35,536,297A/G—likely benign
rs74965723117:35,536,311C/T—pathogenic
rs14637175717:35,536,312T/C—likely benign
rs254564817417:35,538,202C/T—likely benign
rs254564897817:35,538,297T/A—uncertain significance
rs660736417:35,538,304G/A—likely benign
rs254564927217:35,538,306A/C—likely benign
rs13839544117:35,545,280G/A—likely benign
rs19118975417:35,545,323G/A—uncertain significance
rs75295981817:35,545,327G/A—likely benign
rs214503649917:35,545,350G/T—uncertain significance
rs159811398017:35,545,351C/T—uncertain significance
rs207761995517:35,545,366A/G—likely benign
rs19276708017:35,548,136G/A—benign

Showing 100 of 242 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.