ACAA2

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ACAA2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ACAA2, DSAEC, acetyl-CoA acyltransferase 2
External IDs MGI: 1098623 HomoloGene: 4456 GeneCards: ACAA2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006111

NM_177470

RefSeq (protein)

NP_006102

NP_803421.1
NP_803421

Location (UCSC) Chr 18: 49.78 – 49.81 Mb Chr 18: 74.78 – 74.81 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

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

Structure[edit]

The ACAA2 gene encodes a 41.9 kDa protein that is composed of 397 amino acids and contains 88 observed peptides.[5][6]

Function[edit]

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.[3] ACAA2 has been shown to be a functional BNIP3 binding partner, which provides a possible link between fatty acid metabolism and cell apoptosis.[7]

Clinical significance[edit]

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;[8] in addition, this locus has also been correlated with an individual’s risk for coronary artery disease.[9]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: acetyl-Coenzyme A acyltransferase 2". 
  4. ^ Abe H, Ohtake A, Yamamoto S, Satoh Y, Takayanagi M, Amaya Y, Takiguchi M, Sakuraba H, Suzuki Y, Mori M (Nov 1993). "Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase". Biochimica et Biophysica Acta. 1216 (2): 304–6. doi:10.1016/0167-4781(93)90160-f. PMID 8241273. 
  5. ^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475Freely accessible. PMID 23965338. 
  6. ^ "3-ketoacyl-CoA thiolase, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). 
  7. ^ Cao W, Liu N, Tang S, Bao L, Shen L, Yuan H, Zhao X, Lu H (Jun 2008). "Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines". Biochimica et Biophysica Acta. 1780 (6): 873–80. doi:10.1016/j.bbagen.2008.02.007. PMID 18371312. 
  8. ^ Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M (Feb 2008). "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans". Nature Genetics. 40 (2): 189–97. doi:10.1038/ng.75. PMC 2682493Freely accessible. PMID 18193044. 
  9. ^ Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR (Feb 2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics. 40 (2): 161–9. doi:10.1038/ng.76. PMID 18193043. 

External links[edit]

Further reading[edit]

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