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ACAA1

From Wikipedia, the free encyclopedia
ACAA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesACAA1, ACAA, PTHIO, THIO, acetyl-CoA acyltransferase 1, Lnc-Myd88
External IDsOMIM: 604054; MGI: 2148491; HomoloGene: 37497; GeneCards: ACAA1; OMA:ACAA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 119.17 – 119.18 Mb
PubMed search[3][4]
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.[5][6][7]

Acetyl-Coenzyme A acyltransferase 1 is an acetyl-CoA C-acyltransferase enzyme.

Function

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This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes.[5]

Clinical significance

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Deficiency of this enzyme leads to pseudo-Zellweger syndrome.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060971Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036138Ensembl, 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. ^ a b c "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.
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Further reading

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