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HSD3B1

Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

HGNCHGNC:5217EnsemblENSG00000203857NCBI Gene3283
Locus: gene with protein productLocation: 1p12

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asHSDB3 · HSD3B · SDR11E1
View full nomenclature history (4)
Previous symbolsHSDB3, HSD3B
Alias symbolsSDR11E1
Alias namesshort chain dehydrogenase/reductase family 11E, member 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Breast Neoplasms
Cone rod dystrophy
Retinitis Pigmentosa
Leber Congenital Amaurosis
Color Vision Defects
Congenital stationary night blindness
Glaucoma, Open-Angle
Congenital fibrosis of the extraocular muscles

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Short chain dehydrogenase/reductase superfamily

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.