PGP9.5 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification A mutation in this gene

A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria

It does not have a mouse homolog

Mutations in this gene have been associated with antenatal Bartter syndrome

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

This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family

PGP9.5 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification A mutation in this geneThe 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.