PARL Monoclonal Antibody, 100ul Mammalian Expression Two transcript variants encoding different

Two transcript variants encoding different isoforms have been described for RFX2

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

a subset of which do not have known ligands and are referred to as orphan nuclear receptors

This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P

It is predominantly expressed in the ovary

PARL Monoclonal Antibody, 100ul Mammalian Expression Two transcript variants encoding differentThis 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.