The Rabbit Anti-ATP6V0A2 Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to ATP6V0A2. This antibody recognizes Human antigen. The Rabbit Anti-ATP6V0A2 Antibody has been shown to work in the following applications: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
The 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. Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). Loss-of-function mutations in ATP6V0A2 lead to TE aggregation in the Golgi, impaired clearance of TE aggregates and increased apoptosis of elastogenic cells