ACAA2

Acetyl-CoA acyltransferase 2
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4C2J, 4C2K
Identifiers
Symbols	ACAA2 ; DSAEC
External IDs	OMIM: 604770 MGI: 1098623 HomoloGene: 4456 GeneCards: ACAA2 Gene
EC number	2.3.1.16
Gene ontology Molecular function • acetyl-CoA C-acyltransferase activity • protein binding • poly(A) RNA binding Cellular component • mitochondrion • mitochondrial inner membrane • extracellular exosome Biological process • fatty acid metabolic process • cholesterol biosynthetic process • cellular response to hypoxia • negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway • negative regulation of mitochondrial membrane permeability involved in apoptotic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10449	52538
Ensembl	ENSG00000167315	ENSMUSG00000036880
UniProt	P42765	Q8BWT1
RefSeq (mRNA)	NM_006111	NM_177470
RefSeq (protein)	NP_006102	NP_803421
Location (UCSC)	Chr 18: 49.78 – 49.81 Mb	Chr 18: 74.78 – 74.81 Mb
PubMed search	[1]	[2]

3-Ketoacyl-CoA thiolase, mitochondrial also known as acetyl-Coenzyme A acyltransferase 2 is an enzyme that in humans is encoded by the ACAA2 gene.

Acetyl-Coenzyme A acyltransferase 2 is an acetyl-CoA C-acyltransferase enzyme.

Structure

The ACAA2 gene encodes a 41.9 kDa protein that is composed of 397 amino acids and contains 88 observed peptides.

Function

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. ACAA2 has been shown to be a functional BNIP3 binding partner, which provides a possible link between fatty acid metabolism and cell apoptosis.

Clinical significance

To date, mutations or variants have not been identified in any clinical diseases. However, the ACAA2 locus has been associated with abnormal blood lipid levels, particularly HDL and LDL cholesterol levels; in addition, this locus has also been correlated with an individual’s risk for coronary artery disease.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.