SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes Loss of function mutations result

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

Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA

This gene encodes a member of the parathyroid family of proteins

Mutations in TSC1 have been associated with tuberous sclerosis

Several alternatively spliced transcript variants of this gene have been identified

SCN3A Polyclonal Antibody, 100ul Serum & Sample Tubes Loss of function mutations resultVoltage 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