ACAA2 acetyl-CoA acyltransferase 2
Gene ID: 10449, updated on 19-Sep-2024Gene type: protein coding
Also known as: T1; DSAEC
- See all available tests in GTR for this gene
- Go to complete Gene record for ACAA2
- Go to Variation Viewer for ACAA2 variants
Summary
The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Genomic context
- Location:
- 18q21.1
- Sequence:
- Chromosome: 18; NC_000018.10 (49782164..49813533, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACAA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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