ACAA2

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.^[5][6]

ACAA2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4C2J, 4C2K
Identifiers
Aliases	ACAA2, DSAEC, acetyl-CoA acyltransferase 2
External IDs	OMIM: 604770; MGI: 1098623; HomoloGene: 4456; GeneCards: ACAA2; OMA:ACAA2 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q21.1 Start 49,782,164 bp[1] End 49,813,953 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 E2|18 50.76 cM Start 74,912,268 bp[2] End 74,939,279 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver mucosa of transverse colon apex of heart rectum left ventricle right auricle of heart muscle of thigh gastric mucosa islet of Langerhans ventricular zone Top expressed in gallbladder cardiac muscle tissue of left ventricle Ileal epithelium interventricular septum right ventricle choroid plexus of fourth ventricle left lobe of liver extraocular muscle superior surface of tongue corneal stroma More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acyltransferase activity protein binding catalytic activity acyltransferase activity, transferring groups other than amino-acyl groups acetyl-CoA C-acyltransferase activity RNA binding acetyl-CoA C-acetyltransferase activity Cellular component mitochondrial inner membrane extracellular exosome mitochondrion mitochondrial matrix Biological process negative regulation of mitochondrial membrane permeability involved in apoptotic process negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway cholesterol biosynthetic process metabolism cellular response to hypoxia fatty acid metabolic process lipid metabolism fatty acid beta-oxidation 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: 74.91 – 74.94 Mb PubMed search [3] [4]
Wikidata
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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.^[7][8]

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.^[5] ACAA2 has been shown to be a functional BNIP3 binding partner, which provides a possible link between fatty acid metabolism and cell apoptosis.^[9]

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;^[10] in addition, this locus has also been correlated with an individual's risk for coronary artery disease.^[11]