Protein-coding gene in the species Homo sapiens
3-Ketoacyl-CoA thiolase, peroxisomal also known as acetyl-Coenzyme A acyltransferase 1 is an enzyme that in humans is encoded by the ACAA1 gene .[ 5] [ 6] [ 7]
Acetyl-Coenzyme A acyltransferase 1 is an acetyl-CoA C-acyltransferase enzyme.
Function This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes .[ 5]
Clinical significance Deficiency of this enzyme leads to pseudo-Zellweger syndrome .[ 5]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000060971 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036138 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b c "Entrez Gene: acetyl-Coenzyme A acyltransferase 1" .^ Bout A, Hoovers JM, Bakker E, Mannens MM, Geurts van Kessel A, Westerveld A, Tager JM, Benne R (1989). "Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23". Cytogenet. Cell Genet . 52 (3– 4): 147– 50. doi :10.1159/000132865 . PMID 2630187 . ^ Bout A, Franse MM, Collins J, Blonden L, Tager JM, Benne R (August 1991). "Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient". Biochim. Biophys. Acta . 1090 (1): 43– 51. doi :10.1016/0167-4781(91)90035-k . PMID 1679347 .
External links
Further reading
Lawrence JW, Li Y, Chen S, et al. (2001). "Differential gene regulation in human versus rodent hepatocytes by peroxisome proliferator-activated receptor (PPAR) alpha. PPAR alpha fails to induce peroxisome proliferation-associated genes in human cells independently of the level of receptor expression" . J. Biol. Chem . 276 (34): 31521– 7. doi :10.1074/jbc.M103306200 PMID 11418601 . Patel S, Woods DR, Macleod NJ, et al. (2003). "Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia" . Eur. Respir. J . 22 (5): 755– 60. doi :10.1183/09031936.03.00086402 PMID 14621081 . Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing" . Genome Res . 7 (4): 353– 8. doi :10.1101/gr.7.4.353 . PMC 139146 PMID 9110174 . Fujiwara C, Imamura A, Hashiguchi N, et al. (2000). "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder" . J. Biol. Chem . 275 (47): 37271– 7. doi :10.1074/jbc.M006347200 PMID 10960480 . Bout A, Teunissen Y, Hashimoto T, et al. (1988). "Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase" . Nucleic Acids Res . 16 (21): 10369. doi :10.1093/nar/16.21.10369 . PMC 338871 PMID 3194209 . Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome" . Mol. Cell. Proteomics . 7 (3): 499– 508. doi :10.1074/mcp.M700325-MCP200 PMID 18029348 . Ottone F, Raimondi E, Rocchi M, et al. (1995). "Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22". Hum. Hered . 45 (2): 75– 9. doi :10.1159/000154263 . PMID 7750978 . Park HC, Choi SR, Kim BS, et al. (2005). "Polymorphism of the ACE Gene in Dialysis Patients: Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients" . Yonsei Med. J . 46 (6): 779– 87. doi :10.3349/ymj.2005.46.6.779 . PMC 2810591 PMID 16385653 . Daigo Y, Isomura M, Nishiwaki T, et al. (1999). "Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3" . DNA Res . 6 (1): 37– 44. doi :10.1093/dnares/6.1.37 PMID 10231028 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121– 7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107– 13. doi :10.1006/abio.1996.0138 . PMID 8619474 . Schram AW, Goldfischer S, van Roermund CW, et al. (1987). "Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency" . Proc. Natl. Acad. Sci. U.S.A . 84 (8): 2494– 6. Bibcode :1987PNAS...84.2494S . doi :10.1073/pnas.84.8.2494 PMC 304678 PMID 2882519 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899– 903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Wanders RJ, Waterham HR (2006). "Biochemistry of mammalian peroxisomes revisited". Annu. Rev. Biochem . 75 : 295– 332. doi :10.1146/annurev.biochem.74.082803.133329 . PMID 16756494 . Fairbairn LJ, Tanner MJ (1989). "Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase" . Nucleic Acids Res . 17 (9): 3588. doi :10.1093/nar/17.9.3588 . PMC 317802 PMID 2726492 . Omi S, Nakata R, Okamura-Ikeda K, et al. (2008). "Contribution of peroxisome-specific isoform of Lon protease in sorting PTS1 proteins to peroxisomes". J. Biochem . 143 (5): 649– 60. doi :10.1093/jb/mvn020 . PMID 18281296 . This article incorporates text from the United States National Library of Medicine , which is in the public domain .
