SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes Several alternatively spliced transcript variants

Several alternatively spliced transcript variants of this gene have been identified

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

This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer

together with the cofactor GM2 activator protein

Mutations in TSC1 have been associated with tuberous sclerosis

SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes Several alternatively spliced transcript variantsVoltage 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