View source for ACAA1

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: acetyl-Coenzyme A acyltransferase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30}}</ref><ref name="pmid2630187">{{cite journal |vauthors=Bout A, Hoovers JM, Bakker E, Mannens MM, Geurts van Kessel A, Westerveld A, Tager JM, Benne R | title = Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23 | journal = Cytogenet. Cell Genet. | volume = 52 | issue = 3–4 | pages = 147–50 | year = 1989 | pmid = 2630187 | doi = 10.1159/000132865}}</ref><ref name="pmid1679347">{{cite journal |vauthors=Bout A, Franse MM, Collins J, Blonden L, Tager JM, Benne R | title = Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient | journal = Biochim. Biophys. Acta | volume = 1090 | issue = 1 | pages = 43–51 |date=August 1991 | pmid = 1679347 | doi = 10.1016/0167-4781(91)90035-k}}</ref>
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 [[peroxisome]]s.<ref name="entrez"/>
== Clinical significance ==
Deficiency of this enzyme leads to pseudo-[[Zellweger syndrome]].<ref name="entrez"/>
==References==
{{reflist}}
==External links==
* {{UCSC gene info|ACAA1}}
==Further reading==
{{refbegin | 2}}
*{{cite journal  |vauthors=Lawrence JW, Li Y, Chen S |title=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 |journal=J. Biol. Chem. |volume=276 |issue= 34 |pages= 31521–7 |year= 2001 |pmid= 11418601 |doi= 10.1074/jbc.M103306200 |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Patel S, Woods DR, Macleod NJ |title=Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia |journal=Eur. Respir. J. |volume=22 |issue= 5 |pages= 755–60 |year= 2003 |pmid= 14621081 |doi=10.1183/09031936.03.00086402  |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Yu W, Andersson B, Worley KC |title=Large-Scale Concatenation cDNA Sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174  |pmc=139146 |doi=  10.1101/gr.7.4.353|display-authors=etal}}
*{{cite journal  |vauthors=Fujiwara C, Imamura A, Hashiguchi N |title=Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder |journal=J. Biol. Chem. |volume=275 |issue= 47 |pages= 37271–7 |year= 2000 |pmid= 10960480 |doi= 10.1074/jbc.M006347200 |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Bout A, Teunissen Y, Hashimoto T |title=Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase |journal=Nucleic Acids Res. |volume=16 |issue= 21 |pages= 10369 |year= 1988 |pmid= 3194209  |pmc=338871 |doi=10.1093/nar/16.21.10369  |display-authors=etal}}
*{{cite journal  |vauthors=Barbe L, Lundberg E, Oksvold P |title=Toward a confocal subcellular atlas of the human proteome |journal=Mol. Cell. Proteomics |volume=7 |issue= 3 |pages= 499–508 |year= 2008 |pmid= 18029348 |doi= 10.1074/mcp.M700325-MCP200 |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Ottone F, Raimondi E, Rocchi M |title=Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22 |journal=Hum. Hered. |volume=45 |issue= 2 |pages= 75–9 |year=  1995|pmid= 7750978 |doi=10.1159/000154263  |display-authors=etal}}
*{{cite journal  |vauthors=Park HC, Choi SR, Kim BS |title=Polymorphism of the ACE Gene in Dialysis Patients: Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients |journal=Yonsei Med. J. |volume=46 |issue= 6 |pages= 779–87 |year= 2005 |pmid= 16385653  |pmc=2810591 |doi=10.3349/ymj.2005.46.6.779  |display-authors=etal}}
*{{cite journal  |vauthors=Daigo Y, Isomura M, Nishiwaki T |title=Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3 |journal=DNA Res. |volume=6 |issue= 1 |pages= 37–44 |year= 1999 |pmid= 10231028 |doi=  10.1093/dnares/6.1.37|display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334  |pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}}
*{{cite journal  |vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
*{{cite journal  |vauthors=Schram AW, Goldfischer S, van Roermund CW |title=Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 8 |pages= 2494–6 |year= 1987 |pmid= 2882519  |pmc=304678 |doi=10.1073/pnas.84.8.2494  |bibcode=1987PNAS...84.2494S |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932  |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
*{{cite journal  |vauthors=Wanders RJ, Waterham HR |title=Biochemistry of mammalian peroxisomes revisited |journal=Annu. Rev. Biochem. |volume=75 |pages= 295–332 |year= 2006 |pmid= 16756494 |doi= 10.1146/annurev.biochem.74.082803.133329 }}
*{{cite journal  |vauthors=Fairbairn LJ, Tanner MJ |title=Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase |journal=Nucleic Acids Res. |volume=17 |issue= 9 |pages= 3588 |year= 1989 |pmid= 2726492  |pmc=317802 |doi=10.1093/nar/17.9.3588  }}
*{{cite journal  |vauthors=Omi S, Nakata R, Okamura-Ikeda K |title=Contribution of peroxisome-specific isoform of Lon protease in sorting PTS1 proteins to peroxisomes |journal=J. Biochem. |volume=143 |issue= 5 |pages= 649–60 |year= 2008 |pmid= 18281296 |doi= 10.1093/jb/mvn020 |display-authors=etal}}
{{refend}}
{{NLM content}}
[[Category:Human proteins]]
{{gene-3-stub}}