PARL Monoclonal Antibody, 100ul Mammalian Expression This protein and other members

This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis

disease:Defects in MT-ATP6 are a cause of infantile bilateral striatal necrosis

It is predominantly expressed in the ovary

A mutation in this gene has been correlated with T-cell immunodeficiency

Two transcript variants encoding different isoforms have been described for RFX2

PARL Monoclonal Antibody, 100ul Mammalian Expression This protein and other membersThis gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease.