Peroxisomal Multifunctional Enzyme Type 2 (HSD17B4) Antibody – Rabbit Polyclonal

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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

HSD17B4: Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids. Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD). DBPD is a disorder of peroxisomal fatty acid beta-oxidation. Defects in HSD17B4 are the cause of Perrault syndrome (PRS). PRS is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: Lipid Metabolism - primary bile acid biosynthesis; EC 4.2.1.107; Mitochondrial; EC 4.2.1.119; EC 1.1.1.n12; Cell development/differentiation; Lyase; Oxidoreductase

Chromosomal Location of Human Ortholog: 5q21

Cellular Component: intracellular membrane-bound organelle; membrane; mitochondrion; peroxisomal matrix; peroxisomal membrane; peroxisome

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity; isomerase activity; long-chain-enoyl-CoA hydratase activity; protein homodimerization activity; receptor binding

Biological Process: androgen metabolic process; bile acid biosynthetic process; bile acid metabolic process; cellular lipid metabolic process; estrogen metabolic process; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; osteoblast differentiation; Sertoli cell development; unsaturated fatty acid metabolic process; very-long-chain fatty acid metabolic process

Disease: D-bifunctional Protein Deficiency; Perrault Syndrome 1