Recombinant fragment corresponding to a region within amino acids 18 and 261 of HSD17B4 (Uniprot IDP51659)
Alternative Names:
DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1
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. [provided by RefSeq]
