Rabbit anti-Human SCN1B Polyclonal Antibody

Uniprot Id

Q07699

Target Species

Human

Target Name

SCN1B

Target Full Name

Sodium channel regulatory subunit beta-1

Target Function

Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.; Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. Has no regulatory function on the SCN2A sodium channel complex.

Target Involvement

Generalized epilepsy with febrile seizures plus 1 (GEFS+1); Brugada syndrome 5 (BRGDA5); Atrial fibrillation, familial, 13 (ATFB13); Epileptic encephalopathy, early infantile, 52 (EIEE52)

Target Subcellular Location

[Isoform 1]: Cell membrane; Single-pass type I membrane protein. Perikaryon. Cell projection. Cell projection, axon.; [Isoform 2]: Perikaryon. Cell projection. Secreted.

Target Protein Families

Sodium channel auxiliary subunit SCN1B (TC 8.A.17) family

Target Tissue Specificity

The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung,

Target Synonyms

DEE52; ATFB13; BRGDA5; EIEE52; GEFSP1; SCN1B

Target Background

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.