ACACB

acetyl-CoA carboxylase beta

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. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]

Known Variants283 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24607912:109,547,060A/T——
rs3425912:109,551,233G/Cdownstream gene variant—
rs7671427212:109,554,531C/Tregulatory region variant—
rs165488512:109,575,191A/T——
rs75753214612:109,577,214G/A—likely benign
rs7948471212:109,577,229C/T—benign
rs75087897312:109,577,314G/A—uncertain significance
rs14244560712:109,577,338C/T—likely benign
rs14688868312:109,577,339G/A—likely benign
rs13976746412:109,577,344A/G—conflicting classifications of pathogenicity
rs53197635812:109,577,350C/A—uncertain significance
rs76994634112:109,577,383C/T—likely benign
rs126172858312:109,577,436C/T—uncertain significance
rs76998142612:109,577,470G/A—likely benign
rs77495986912:109,577,476G/T—uncertain significance
rs76793675012:109,577,491C/T—uncertain significance
rs20176754912:109,577,516C/A—conflicting classifications of pathogenicity
rs77106852312:109,577,565G/A—uncertain significance
rs14991613212:109,577,588G/C—uncertain significance
rs57773004312:109,577,701A/G—uncertain significance
rs141664781612:109,577,742G/C—uncertain significance
rs14702436912:109,577,764G/A—conflicting classifications of pathogenicity
rs11801846912:109,577,776G/A—benign
rs20159951312:109,577,782G/A—uncertain significance
rs74745601612:109,577,847C/T—uncertain significance
rs56090891512:109,577,848G/A—uncertain significance
rs145448557112:109,586,040G/T—likely benign
rs1784882012:109,604,668C/T—likely benign
rs119389250312:109,604,735C/A—uncertain significance
rs145708768812:109,604,736T/G—uncertain significance
rs204392743912:109,604,749C/T—uncertain significance
rs14637071612:109,604,770G/T—uncertain significance
rs204393074812:109,604,805A/T—likely benign
rs77664081112:109,605,738G/A—uncertain significance
rs146044955112:109,605,752C/T—uncertain significance
rs37240523012:109,609,636G/A—uncertain significance
rs14702098112:109,609,713C/T—benign
rs75344754812:109,610,081C/A—uncertain significance
rs57544577012:109,610,082G/A—likely benign
rs250064584312:109,610,116C/T—uncertain significance
rs143418737012:109,610,117C/G—uncertain significance
rs19965563512:109,610,126C/T—uncertain significance
rs76903640012:109,610,138G/T—uncertain significance
rs37688066712:109,610,164A/G—likely benign
rs660669712:109,611,720A/T——
rs56118152412:109,611,978G/A—uncertain significance
rs19955141112:109,611,992C/T—likely benign
rs250068866212:109,613,741A/T—uncertain significance
rs104169157112:109,613,775G/A—uncertain significance
rs134656317712:109,613,838G/C—uncertain significance
rs204427745412:109,613,985A/G—uncertain significance
rs75368425712:109,614,053G/C—likely benign
rs18325743712:109,616,888G/A—benign
rs76397718712:109,616,915C/T—uncertain significance
rs55572331012:109,616,922C/A—uncertain significance
rs14986989412:109,616,946C/T—likely benign
rs1106576512:109,617,048T/G—benign
rs126722882512:109,617,808C/G—uncertain significance
rs14089489712:109,617,824C/T—uncertain significance
rs204441499512:109,617,863G/A—uncertain significance
rs20095472612:109,617,866G/A—uncertain significance
rs101222051112:109,623,377A/G—likely benign
rs120718671312:109,623,424G/A—uncertain significance
rs144486381012:109,623,448G/T—uncertain significance
rs11140394012:109,623,495G/A—uncertain significance
rs20206259512:109,623,499G/A—uncertain significance
rs37676062512:109,623,507G/A—uncertain significance
rs14335158912:109,623,515C/T—likely benign
rs204463518312:109,623,528A/G—association
rs78103311212:109,623,554T/G—likely benign
rs37321743612:109,625,853G/A—likely benign
rs15049925412:109,625,860C/T—likely benign
rs116659712412:109,625,911G/A—likely benign
rs122554682112:109,625,952G/A—uncertain significance
rs56209425712:109,629,453G/A—uncertain significance
rs14520573212:109,629,472C/T—likely benign
rs75763062812:109,629,527G/A—uncertain significance
rs36755225612:109,629,532C/T—likely benign
rs74549155612:109,629,533G/A—uncertain significance
rs138651270712:109,629,538G/T—uncertain significance
rs19963215712:109,629,676G/A—uncertain significance
rs136909584712:109,629,683T/C—uncertain significance
rs37547360012:109,629,688G/A—uncertain significance
rs36780548712:109,631,490G/A—uncertain significance
rs55060346212:109,631,511G/A—uncertain significance
rs74829379112:109,631,515G/T—uncertain significance
rs147079264912:109,631,526A/G—uncertain significance
rs118073944212:109,634,816G/T—uncertain significance
rs77641510312:109,634,832C/G—uncertain significance
rs15023368712:109,634,854T/C—likely benign
rs76736779612:109,634,865T/G—uncertain significance
rs250095993912:109,634,874A/C—uncertain significance
rs13889854912:109,634,881C/T—likely benign
rs36788580412:109,634,882C/G—uncertain significance
rs250096349112:109,634,957A/G—uncertain significance
rs7339805412:109,637,234G/T—benign
rs115971690612:109,637,341G/A—uncertain significance
rs14957530812:109,639,365G/A—likely benign
rs14438581112:109,639,410A/T—conflicting classifications of pathogenicity
rs13951110212:109,639,465G/A—uncertain significance

Showing 100 of 283 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.