ACAA1

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]

ACAA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesACAA1, ACAA, PTHIO, THIO, acetyl-CoA acyltransferase 1
External IDsOMIM: 604054 MGI: 2148491 HomoloGene: 37497 GeneCards: ACAA1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p22.2Start38,103,129 bp[1]
End38,137,242 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

30

113868

Ensembl

ENSG00000060971

ENSMUSG00000036138

UniProt

P09110

Q921H8

RefSeq (mRNA)

NM_001130410
NM_001607

NM_130864
NM_001357516

RefSeq (protein)

NP_001123882
NP_001598
NP_001598.1

NP_570934
NP_001344445

Location (UCSC)Chr 3: 38.1 – 38.14 MbChr 9: 119.34 – 119.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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References

  1. GRCh38: Ensembl release 89: ENSG00000060971 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036138 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
  6. 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.
  7. 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.

Further reading

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


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