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SPR

Gene

sepiapterin reductase

HGNCHGNC:11257EnsemblENSG00000116096NCBI Gene6697
Locus: gene with protein productLocation: 2p13.2

Also known as

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

Also known asSDR38C1
View full nomenclature history (4)
Alias symbolsSDR38C1
Previous namessepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Alias namesshort chain dehydrogenase/reductase family 38C, member 1, Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)

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.

Dystonic Disorders
Genetic Diseases, Inborn
Neuroblastoma
Carcinoma, Hepatocellular
Autistic Disorder

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.