HSD17B4
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.
Involvement in disease
D-bifunctional protein deficiency
DBPD
Disorder of peroxisomal fatty acid beta-oxidation.
None
The disease is caused by variants affecting the gene represented in this entry.
Perrault syndrome 1
PRLTS1
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 intellectual disability and cerebellar and peripheral nervous system involvement.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; fatty acid beta-oxidation.
Sequence Similarities
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Tissue Specificity
Present in many tissues with highest concentrations in liver, heart, prostate and testis.
Cellular localization
- Peroxisome
Alternative names
EDH17B4, SDR8C1, HSD17B4, Peroxisomal multifunctional enzyme type 2, MFE-2, 17-beta-hydroxysteroid dehydrogenase 4, D-bifunctional protein, Multifunctional protein 2, Short chain dehydrogenase/reductase family 8C member 1, 17-beta-HSD 4, DBP, MFP-2