ACOX3 Chromosome 4

Acyl-CoA oxidase 3, pristanoyl
1 variant 1 Health Risk

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What This Gene Does
Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000087008
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS114891471 Health Risk Conflicting classifications of pathogenicity
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