Mouse anti-Human/Mouse sapiens (Human) HSD17B4 Monoclonal Antibody

Function

Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce (3R)-3-hydroxyacyl-CoA, and dehydrogenation of (3R)-3-hydroxyacyl-CoA to produce 3-ketoacyl-CoA (3-oxoacyl-CoA), which is further metabolized by SCPx. Can use straight-chain and branched-chain fatty acids, as well as bile acid intermediates as substrates. May play a role in peroxisomal beta-oxidation step in polyunsaturated fatty acids (PUFAs) biosynthesis. Possibly regulates systemic levels of docosahexaenoic acid (DHA, C22:6n-3) through a process involving endoplasmic reticulum desaturation and elongation of alpha-linolenic acid (ALA, C18:3n-3) to form tetracosahexaenoic acid (THA, C24:6n-3), which is then beta-oxidized to DHA in peroxisomes

Subcellular Location

Peroxisome

Disease Association

D-bifunctional protein deficiency (DBPD) : Disorder of peroxisomal fatty acid beta-oxidation. [The disease is caused by variants affecting the gene represented in this entry] | Perrault syndrome 1 (PRLTS1) : An autosomal recessive, 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 intellectual disability and cerebellar and peripheral nervous system involvement. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Present in many tissues with highest concentrations in liver, heart, prostate and testis

Subunit

Homodimer

Pathway

Lipid metabolism; fatty acid beta-oxidation

• Adamski J. et al. Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV. — Biochem. J. (1995)
• Jiang L.L. et al. Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. — J. Biochem. (1997)
• Leenders F. et al. Structure of the gene for the human 17beta-hydroxysteroid dehydrogenase type IV. — Mamm. Genome (1998)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Schmutz J. et al. The DNA sequence and comparative analysis of human chromosome 5. — Nature (2004)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Wanders R.J. et al. Postnatal diagnosis of peroxisomal disorders: a biochemical approach. — Biochimie (1993)
• Jiang L.L. et al. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. — J. Biochem. (1996)