The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8.
Pathway
Beta-oxidation of pristanoyl-CoA, organism-specific biosystem; Beta-oxidation of very long chain fatty acids, organism-specific biosystem; Bile acid and bile salt metabolism, organism-specific biosystem; Bile acid biosynthesis, cholesterol => cholate, organism-specific biosystem; Bile acid biosynthesis, cholesterol => cholate, conserved biosystem;
Citations
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