Gene Symbol | SRD5A3 |
Entrez Gene ID | 79644 |
Full Name | steroid 5 alpha-reductase 3 |
Synonyms | CDG1P,CDG1Q,KRIZI,SRD5A2L,SRD5A2L1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Iq, 612379 (3); Kahrizi syndrome, 612713 (3) |