ACACB Chromosome 12

Acetyl-CoA carboxylase beta
8 variants 8 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Acetyl-CoA carboxylase family
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000076555
Associated Conditions (2)
Autism spectrum disorder
ACACB-related disorder
Key Variants
All Variants (8)
RSID Category Clinical Significance Conditions
RS2044635183 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS139767464 Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS144385811 Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS147024369 Health Risk Conflicting classifications of pathogenicity
RS148241794 Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS201767549 Health Risk Conflicting classifications of pathogenicity
RS372645487 Health Risk Conflicting classifications of pathogenicity
RS76447919 Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
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