HSD17B3 (P37058) variants and mutations

HSD17B3 (also known as P37058) is a human protein-coding gene encoding a 17-beta-hydroxysteroid dehydrogenase type 3 protein. It converts androstenedione to testosterone in the testes, providing a key step in androgen synthesis during male sexual development. Biallelic loss-of-function variants cause 17-beta-hydroxysteroid dehydrogenase 3 deficiency, a 46,XY disorder of sex development. This analysis covers 501 HSD17B3 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3, pseudohermaphroditism, and hereditary disease. Example HSD17B3 variants include M1I, M1V, and D3Y.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable HSD17B3 variants

Examples include M1I, M1V, D3Y, V4I, E6K, L11F, L11I, L11R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.