ACOX1
Identifiers
AliasesACOX1, ACOX, PALMCOX, SCOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase 1, MITCH
External IDsOMIM: 609751 MGI: 1330812 HomoloGene: 38299 GeneCards: ACOX1
Orthologs
SpeciesHumanMouse
Entrez

51

11430

Ensembl

ENSG00000161533

ENSMUSG00000020777

UniProt

Q15067

Q9R0H0

RefSeq (mRNA)

NM_001185039
NM_004035
NM_007292

NM_001271898
NM_015729
NM_001377521
NM_001377522

RefSeq (protein)

NP_001171968
NP_004026
NP_009223

NP_001258827
NP_056544
NP_001364450
NP_001364451

Location (UCSC)Chr 17: 75.94 – 75.98 MbChr 11: 116.06 – 116.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.[5][6]

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.[6]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000161533 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020777 - 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. Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proc Natl Acad Sci U S A. 91 (8): 3107–11. Bibcode:1994PNAS...91.3107V. doi:10.1073/pnas.91.8.3107. PMC 43524. PMID 8159712.
  6. 1 2 "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".

Further reading


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