Alternative titles; symbols
HGNC Approved Gene Symbol: ACOX3
Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:8,355,305-8,440,723 (from NCBI)
In rat, 2-methyl branched fatty acids and the bile acid intermediates di- and tri-hydroxycoprostanic acids are desaturated in the peroxisomes by pristanoyl-CoA oxidase and trihydroxycoprostanoyl-CoA oxidase, respectively. In humans these compounds are oxidized by a single enzyme, branched-chain acyl-CoA oxidase (ACOX2; 601641), which is homologous to rat trihydroxycoprostanoyl-CoA oxidase. Vanhooren et al. (1997) stated that Western and Northern blot analyses had previously shown that pristanoyl-CoA oxidase is not found in human tissues. However, by searching an EST database, they identified several human partial cDNAs with homology to rat pristanoyl-CoA oxidase. They screened a liver library with a rat pristanoyl-CoA oxidase cDNA and recovered a cDNA corresponding to the entire coding region of the human protein. The predicted 700-amino acid human pristanoyl-CoA oxidase contains a C-terminal SKL (ser-lys-leu) peroxisomal targeting sequence. The human and rat enzymes share 75% sequence identity.
Because Vanhooren et al. (1997) were unable to detect pristanoyl-CoA oxidase mRNA, protein, or enzymic activity in human tissues, they suggested that the enzyme is expressed only under special circumstances, such as during particular developmental stages, or in specialized tissues not examined to that time. They noted that ACOX2 has taken over the function of pristanoyl-CoA oxidase in human tissues.
Analysis of genomic clones by Vanhooren et al. (1997) indicated that the human pristanoyl-CoA oxidase gene contains 5 exons and that the intron/exon organization of the human and rat genes is almost identical.
By fluorescence in situ hybridization, Vanhooren et al. (1997) mapped the human pristanoyl-CoA oxidase gene to 4p15.3.
Vanhooren, J. C. T., Marynen, P., Mannaerts, G. P., Van Veldhoven, P. P. Evidence for the existence of a pristanoyl-CoA oxidase gene in man. Biochem. J. 325: 593-599, 1997. [PubMed: 9271077] [Full Text: https://doi.org/10.1042/bj3250593]