ACAA1

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Acetyl-CoA acyltransferase 1
PDB 2iik EBI.png
PDB rendering based on 2iik.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ACAA1 ; ACAA; PTHIO; THIO
External IDs OMIM604054 MGI2148491 HomoloGene37497 GeneCards: ACAA1 Gene
EC number 2.3.1.16
Orthologs
Species Human Mouse
Entrez 30 113868
Ensembl ENSG00000060971 ENSMUSG00000036138
UniProt P09110 Q921H8
RefSeq (mRNA) NM_001130410 NM_130864
RefSeq (protein) NP_001123882 NP_570934
Location (UCSC) Chr 3:
38.16 – 38.18 Mb
Chr 9:
119.34 – 119.35 Mb
PubMed search [1] [2]

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[edit]

This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes.[1]

Clinical significance[edit]

Deficiency of this enzyme leads to pseudo-Zellweger syndrome.[1]

References[edit]

  1. ^ a b c "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. 

Further reading[edit]

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