Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 by Kornak Uwe, Reynders Ellen, Dimopoulou Aikaterini, van Reeuwijk Jeroen, Fischer Bjoern, Rajab Anna, Budde Birgit, Nürnberg Peter, Foulquier Francois, ARCL Debré-type Study Group, Lefeber Dirk, Urban Zsolt, Gruenewald Stephanie, Annaert Wim, Brunner Han G, van Bokhoven Hans, Wevers Ron, Morava Eva, Matthijs Gert, Van Maldergem Lionel, Mundlos Stefan in Nature genetics (2008). PubMed


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.

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