ACACB Chromosome 12
Acetyl-CoA carboxylase beta
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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
RS2044635183
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS139767464
Conflicting classifications of pathogenicity
ACACB-related disorder, ACACB-related disorder
Health Risk
RS144385811
Conflicting classifications of pathogenicity
ACACB-related disorder, ACACB-related disorder
Health Risk
RS147024369
Conflicting classifications of pathogenicity
Health Risk
RS148241794
Conflicting classifications of pathogenicity
ACACB-related disorder, ACACB-related disorder
Health Risk
RS201767549
Conflicting classifications of pathogenicity
Health Risk
RS372645487
Conflicting classifications of pathogenicity
Health Risk
RS76447919
Conflicting classifications of pathogenicity
ACACB-related disorder, ACACB-related disorder
Health Risk
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 |