Family

Testosterone 17-beta-dehydrogenase 3 (IPR033281)

Short name: HSD17B3

Overlapping homologous superfamilies

Family relationships

Description

Testosterone 17-beta-dehydrogenase 3 (HSD17B3) is involved in the pathway testosterone biosynthesis. It catalyses the conversion of the androstenedione to testosterone, which is responsible for the normal fetal development of male genitalia. It is predominantly expressed in the testes and utilizes NADPH as a cofactor. Mutations in the HSD17B3 gene cause 17beta-hydroxysteroid dehydrogenase type 3 (17beta-HSD3) deficiency cause 46, XY Disorders of Sex Development (46, XY DSD) [PMID: 26545797].

GO terms

Biological Process

GO:0030539 male genitalia development
GO:0061370 testosterone biosynthetic process

Molecular Function

GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER