The Rabbit Anti-ATP6V0A4 Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to ATP6V0A4. This antibody recognizes Human antigen. The Rabbit Anti-ATP6V0A4 Antibody has been shown to work in the following applications: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA). ATP6V1B mutations have been associated with early sensorineural hearing loss (SNHL), whereas ATP6V0A4 mutations are classically associated with either late-onset SNHL or normal hearing. Mutations in the ATP6V1B1 and the ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). Mutations in ATP6V0A4 lead to distal renal acidosis (MIM 602722) with a highly variable range of hearing phenotype