ACAA1

ACAA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases ACAA1, ACAA, PTHIO, THIO, acetyl-CoA acyltransferase 1
External IDs MGI: 2148491 HomoloGene: 37497 GeneCards: ACAA1
Orthologs
Species Human Mouse
Entrez

30

113868

Ensembl

ENSG00000060971

ENSMUSG00000036138

UniProt

P09110

Q921H8

RefSeq (mRNA)

NM_001130410
NM_001607

NM_130864

RefSeq (protein)

NP_001123882.1
NP_001598.1
NP_001598.1

NP_570934.1

Location (UCSC) Chr 3: 38.1 – 38.14 Mb Chr 9: 119.34 – 119.35 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3][4][5]

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.[3]

Clinical significance

Deficiency of this enzyme leads to pseudo-Zellweger syndrome.[3]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 3 "Entrez Gene: acetyl-Coenzyme A acyltransferase 1".
  4. 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.
  5. 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.


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