SCN2A Antibody – Rabbit Polyclonal

SCN2A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3). An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11). EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2q24.3

Cellular Component: voltage-gated sodium channel complex; integral to plasma membrane; axon; paranode region of axon; T-tubule; plasma membrane; intrinsic to plasma membrane

Molecular Function: voltage-gated sodium channel activity

Biological Process: myelination; neuron apoptosis; induction of apoptosis by ionic changes; sodium ion transport; generation of action potential

Disease: Seizures, Benign Familial Infantile, 3; Epileptic Encephalopathy, Early Infantile, 11