Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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.
D003483:Cutis Laxa / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D006031:Glycosylation; D006056:Golgi Apparatus; D006801:Humans; D007223:Infant; D008297:Male; D006180:Proton-Translocating ATPases / Q000235:genetics*
C525845:ATP6V0A2 protein, human; D006180:Proton-Translocating ATPases