PGP9.5 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification Mutations in this gene have

Mutations in this gene have been associated with antenatal Bartter syndrome

Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described

2005 [PubMed 16174644])

which are small domains on the inner cell membranes

subunit:Interacts with C-terminal domain of actin-binding protein 280

PGP9.5 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification Mutations in this gene haveThe protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.