| Primary Identifier | IPR039698 | Type | Family |
| Short Name | Dfg10/SRD5A3 |
| description | This entry represents a group of polyprenol reductases, including SRD5A3 from humans, PPRD1 from Arabidopsis and Dfg10 from budding yeasts. SRD5A3 is required for converting polyprenol to dolichol []. Mutations in the SRD5A3 gene cause congenital disorder of glycosylation 1Q, a genetic disease with an extremely broad spectrum of clinical presentations due to defective glycosylation of glycoproteins and glycolipids [, ]. PPRD2 deficiency results in aberrant development of the male gametophyte and sporophyte []. Homologues are known from animals, plants and fungi. |
