Disease-gene associations mined from literature

Literature associating SRD5A3 and Walker-Warburg syndrome

SRD5A3 [ENSP00000264228]

3-oxo-5-alpha-steroid 4-dehydrogenase 3; Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).

Synonyms:  SRD5A3,  SRD5A3p,  hSRD5A3,  H0Y9P9,  Q9H8P0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM