Kornak Uwe, Reynders Ellen, Dimopoulou Aikaterini, van Reeuwijk Jeroen, Fischer Bjoern, Rajab Anna, Budde Birgit, Nürnberg Peter, Foulquier Francois, 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
Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany.
Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23.
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.
我们在几个患有常染色体隐性遗传II型皮肤松弛症或皱皮综合征的家族中，发现了编码V型H⁺ATP酶a2亚基的ATP6V0A2基因的功能缺失突变。这些突变导致血清蛋白异常糖基化（II型先天性糖基化障碍），并致使患病个体成纤维细胞中的高尔基体运输受损。这些结果表明，质子泵的a2亚基在高尔基体功能中起着重要作用。
