ACAA2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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.[1][2]
Acetyl-Coenzyme A acyltransferase 2 is an acetyl-CoA C-acyltransferase enzyme.
Structure
[edit | edit source]The ACAA2 gene encodes a 41.9 kDa protein that is composed of 397 amino acids and contains 88 observed peptides.[3][4]
Function
[edit | edit source]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.[1] ACAA2 has been shown to be a functional BNIP3 binding partner, which provides a possible link between fatty acid metabolism and cell apoptosis.[5]
Clinical significance
[edit | edit source]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;[6] in addition, this locus has also been correlated with an individual's risk for coronary artery disease.[7]
References
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External links
[edit | edit source]- Human ACAA2 genome location and ACAA2 gene details page in the UCSC Genome Browser.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
