Article
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell - 23 Jul 2010
Cantagrel Vincent, Lefeber Dirk J, Ng Bobby G, Guan Ziqiang, Silhavy Jennifer L, Bielas Stephanie L, Lehle Ludwig, Hombauer Hans, Adamowicz Maciej, Swiezewska Ewa, De Brouwer Arjan P, Blümel Peter, Sykut-Cegielska Jolanta, Houliston Scott, Swistun Dominika, Ali Bassam R, Dobyns William B, Babovic-Vuksanovic Dusica, van Bokhoven Hans, Wevers Ron A, Raetz Christian R H, Freeze Hudson H, Morava Eva, Al-Gazali Lihadh, Gleeson Joseph G
Abstract excerpt
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 SRD5A3 is...
Topics
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- Abnormalities, Multiple
- Animals
- Butadienes
- Consanguinity
- Dolichols
- Embryo, Mammalian
- Genome-Wide Association Study