ACAA1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. 1.0 1.1 1.2 "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
  2. 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.
  3. 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

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