Biology:ACAA1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[1][2][3]
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.[1]
Clinical significance
Deficiency of this enzyme leads to pseudo-Zellweger syndrome.[1]
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: acetyl-Coenzyme A acyltransferase 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30.
- ↑ "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. 1989. doi:10.1159/000132865. PMID 2630187.
- ↑ "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. August 1991. doi:10.1016/0167-4781(91)90035-k. PMID 1679347.
External links
- Human ACAA1 genome location and ACAA1 gene details page in the UCSC Genome Browser.
Further reading
- "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. 2001. doi:10.1074/jbc.M103306200. PMID 11418601.
- "Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia". Eur. Respir. J. 22 (5): 755–60. 2003. doi:10.1183/09031936.03.00086402. PMID 14621081.
- "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder". J. Biol. Chem. 275 (47): 37271–7. 2000. doi:10.1074/jbc.M006347200. PMID 10960480.
- "Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 16 (21): 10369. 1988. doi:10.1093/nar/16.21.10369. PMID 3194209.
- "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics 7 (3): 499–508. 2008. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- "Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22". Hum. Hered. 45 (2): 75–9. 1995. doi:10.1159/000154263. PMID 7750978.
- "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. 2005. doi:10.3349/ymj.2005.46.6.779. PMID 16385653.
- "Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3". DNA Res. 6 (1): 37–44. 1999. doi:10.1093/dnares/6.1.37. PMID 10231028.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency". Proc. Natl. Acad. Sci. U.S.A. 84 (8): 2494–6. 1987. doi:10.1073/pnas.84.8.2494. PMID 2882519. Bibcode: 1987PNAS...84.2494S.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Biochemistry of mammalian peroxisomes revisited". Annu. Rev. Biochem. 75: 295–332. 2006. doi:10.1146/annurev.biochem.74.082803.133329. PMID 16756494.
- "Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase". Nucleic Acids Res. 17 (9): 3588. 1989. doi:10.1093/nar/17.9.3588. PMID 2726492.
- "Contribution of peroxisome-specific isoform of Lon protease in sorting PTS1 proteins to peroxisomes". J. Biochem. 143 (5): 649–60. 2008. 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.
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