SRD5A3: A Surprising Role in Glycosylation
نویسندگان
چکیده
The steroid 5alpha-reductase (SRD5A) family of enzymes produces steroid hormones that regulate male sexual development. Now, Cantagrel et al. (2010) identify a member of this family, SRD5A3, as a polyprenol reductase with a crucial role in N-linked protein glycosylation and pinpoint SRD5A3 mutations as the cause of a rare Mendelian disease.
منابع مشابه
Session 5. Lipids: Metabolism and Biological Functions Lectures L5.1 Dolichol metabolism as key regulator of protein glycosylation
Background: The Congenital Disorders of Glycosylation form a group of human genetic diseases with abnormal protein glycosylation. Protein N-glycosylation is initiated in the Endoplasmic Reticulum by glycosylation of the lipid dolichol. Genetic defects in this process lead to a (partial) lack of complete N-glycans on proteins and a multisystem disease with neurological symptoms, abnormal coagula...
متن کاملSRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5alpha-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that...
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ورودعنوان ژورنال:
- Cell
دوره 142 شماره
صفحات -
تاریخ انتشار 2010