Hydroxysteroid (17-Beta) Dehydrogenase 4 (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: EC 1.1.1.n12; Mitochondrial; Oxidoreductase; Cell development/differentiation; Lipid Metabolism - primary bile acid biosynthesis; EC 4.2.1.107; Lyase; EC 4.2.1.119

Chromosomal Location of Human Ortholog: 5q21

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

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

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

Disease: Perrault Syndrome 1; D-bifunctional Protein Deficiency