Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors:
- the ARCL Debré-type Study GroupTGthe ARCL Debré-type Study Group
- Uwe KornakUKUwe Kornak
- Bjoern FischerBFBjoern Fischer
- Francois FoulquierFFFrancois Foulquier
- Zsolt UrbanZsolt Urban
- 23 December 2007
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 40 (1) , 32-34
Abstract
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function.Keywords
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