HSD17B4

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.

Full Name

hydroxysteroid (17-beta) dehydrogenase 4

Function

Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from straight-chain, 2-methyl-branched-chain fatty acids bile acid intermediates. With EHHADH, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:10671535).

Biological Process

Androgen metabolic process Source: UniProtKB
Estrogen metabolic process Source: UniProtKB
Fatty acid beta-oxidation Source: UniProtKB
Medium-chain fatty-acyl-CoA metabolic process Source: UniProtKB
Osteoblast differentiation Source: UniProtKB
Sertoli cell development Source: Ensembl
Very long-chain fatty acid metabolic process Source: Ensembl
Very long-chain fatty-acyl-CoA metabolic process Source: UniProtKB

Cellular Location

Peroxisome

Involvement in disease

D-bifunctional protein deficiency (DBPD):
Disorder of peroxisomal fatty acid beta-oxidation.
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 mental retardation and cerebellar and peripheral nervous system involvement.