ACOX1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.[1][2]
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.[2]
Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.[3]
See also
[edit | edit source]References
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External links
[edit | edit source]- Human ACOX1 genome location and ACOX1 gene details page in the UCSC Genome Browser.
Further reading
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