KCNT1 Antibody – Rabbit Polyclonal

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KCNT1: Outwardly rectifying potassium channel subunit that may co-assemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro). Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: voltage-gated potassium channel complex

Molecular Function: voltage-gated potassium channel activity; calcium-activated potassium channel activity

Disease: Epilepsy, Nocturnal Frontal Lobe, 5; Epileptic Encephalopathy, Early Infantile, 14