title: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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.
authors.affiliation: Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany. uwe.kornak@charite.de
authors.forename: Uwe
authors.initials: U
authors.lastname: Kornak
authors.forename: Ellen
authors.initials: E
authors.lastname: Reynders
authors.forename: Aikaterini
authors.initials: A
authors.lastname: Dimopoulou
authors.forename: Jeroen
authors.initials: J
authors.lastname: van Reeuwijk
authors.forename: Bjoern
authors.initials: B
authors.lastname: Fischer
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Birgit
authors.initials: B
authors.lastname: Budde
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Francois
authors.initials: F
authors.lastname: Foulquier
authors.forename: Dirk
authors.initials: D
authors.lastname: Lefeber
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Urban
authors.forename: Stephanie
authors.initials: S
authors.lastname: Gruenewald
authors.forename: Wim
authors.initials: W
authors.lastname: Annaert
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Ron
authors.initials: R
authors.lastname: Wevers
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
mesh_terms: 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*
chemical_list: C525845:ATP6V0A2 protein, human; D006180:Proton-Translocating ATPases