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Search results 1 to 1 out of 1 for Srd5a3

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
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.