HSD17B3

Chr 9q22.32

hydroxysteroid 17-beta dehydrogenase 3

Aliases:: SDR12C2
MANE:: ENST00000375263.8

OMIM: 605573 ↗NCBI: 3293 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HSD17B3 · P37058

v62025-08-01

Predicted Aligned Error matrix for HSD17B3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.8/ 100

Very high

310 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)12%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
0.82
pseudohermaphroditism
0.52
hereditary disease
0.51
disorder of sexual differentiation
0.41
Genetic 46,XY disorder of sex development
0.40
arthropathy
0.24
Meniere disease
0.23
Hypocalcemia
0.22
knee fracture
0.15
posterior cortical atrophy
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

17-beta-hydroxysteroid dehydrogenase type 3

Catalyzes the conversion of 17-oxosteroids to 17beta-hydroxysteroids (PubMed:16216911, PubMed:23856005, PubMed:26545797, PubMed:27927697, PubMed:8075637). Favors the reduction of androstenedione to testosterone (PubMed:16216911, PubMed:23856005, PubMed:26545797, PubMed:27927697). Testosterone is the key androgen driving male development and function (PubMed:8075637). Uses NADPH while the two other EDH17B enzymes use NADH (PubMed:16216911, PubMed:26545797, PubMed:8075637). Androgens such as epiandrosterone, dehydroepiandrosterone, androsterone and androstanedione are accepted as substrates and reduced at C-17 (PubMed:16216911). Can reduce 11-ketoandrostenedione as well as 11beta-hydroxyandrostenedione at C-17 to the respective testosterone forms (PubMed:16216911, PubMed:27927697)