Biology:ACAA2
 Generic protein structure example |
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
The ACAA2 gene encodes a 41.9 kDa protein that is composed of 397 amino acids and contains 88 observed peptides.[3][4]
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.[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
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
- ↑ 1.0 1.1 "Entrez Gene: acetyl-Coenzyme A acyltransferase 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10449.
- ↑ "Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression 1216 (2): 304–6. Nov 1993. doi:10.1016/0167-4781(93)90160-f. PMID 8241273.
- ↑ ]"Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research 113 (9): 1043–53. Oct 2013. doi:10.1161/CIRCRESAHA.113.301151. PMID 23965338.
- ↑ "3-ketoacyl-CoA thiolase, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=P42765.
- ↑ "Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines". Biochimica et Biophysica Acta (BBA) - General Subjects 1780 (6): 873–80. Jun 2008. doi:10.1016/j.bbagen.2008.02.007. PMID 18371312.
- ↑ "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans". Nature Genetics 40 (2): 189–97. Feb 2008. doi:10.1038/ng.75. PMID 18193044.
- ↑ "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics 40 (2): 161–9. Feb 2008. doi:10.1038/ng.76. PMID 18193043.
External links
- Human ACAA2 genome location and ACAA2 gene details page in the UCSC Genome Browser.
Further reading
- "Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes". The Biochemical Journal 383 (Pt 2): 237–48. Oct 2004. doi:10.1042/BJ20040647. PMID 15242332.
- "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans". Nature Genetics 40 (2): 189–97. Feb 2008. doi:10.1038/ng.75. PMID 18193044.
- "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics 40 (2): 161–9. Feb 2008. doi:10.1038/ng.76. PMID 18193043.
- "Sterol carrier protein-2". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1486 (1): 45–54. Jun 2000. doi:10.1016/s1388-1981(00)00047-0. PMID 10856712.
- "Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines". Biochimica et Biophysica Acta (BBA) - General Subjects 1780 (6): 873–80. Jun 2008. doi:10.1016/j.bbagen.2008.02.007. PMID 18371312.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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