SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes An extremely rare recessive genetic

An extremely rare recessive genetic disorder

together with the cofactor GM2 activator protein

spindle assembly

Mutations in TSC1 have been associated with tuberous sclerosis

Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome

SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes An extremely rare recessive geneticVoltage gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants