steroid 5 alpha-reductase 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalCongenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
SRD5A3-congenital disorder of glycosylation
Kahrizi syndrome
benign prostatic hyperplasia
prostate cancer
prostate carcinoma
androgenetic alopecia
neurodegenerative disease
congenital disorder of glycosylation
Abnormality of the nervous system
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Polyprenal reductase
Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol (PubMed:20637498, PubMed:38821050). Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism (PubMed:38821050). Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation (PubMed:20637498, PubMed:38821050). Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT) (PubMed:17986282, PubMed:26855069)
Curated MONDO disease pages that list SRD5A3 among their top associated genes.
SRD5A3 · Q9H8P0
Mean pLDDT
88.4/ 100
Confident
318 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
