Potassium Voltage-Gated Channel Subfamily A Member 1 (KCNA1) ELISA Kit for Human

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]

Kv1.1: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Defects in KCNA1 are the cause of episodic ataxia type 1 (EA1); also known as paroxysmal or episodic ataxia with myokymia (EAM) or paroxysmal ataxia with neuromyotonia. EA1 is an autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. Defects in KCNA1 are the cause of myokymia isolated type 1 (MK1). Myokymia is a condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily.

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

Chromosomal Location of Human Ortholog: 12p13.32

Cellular Component: apical plasma membrane; axon terminus; cell junction; cell soma; cell surface; cytoplasmic vesicle; cytosol; dendrite; endoplasmic reticulum; integral component of plasma membrane; juxtaparanode region of axon; paranode region of axon; perikaryon; plasma membrane; presynaptic membrane; synapse; voltage-gated potassium channel complex

Molecular Function: delayed rectifier potassium channel activity; potassium channel activity; potassium ion transmembrane transporter activity; protein binding; voltage-gated potassium channel activity

Biological Process: cell communication by electrical coupling; cellular protein localization; cellular response to magnesium ion; detection of mechanical stimulus involved in sensory perception of pain; detection of mechanical stimulus involved in sensory perception of touch; generation of action potential; hippocampus development; magnesium ion homeostasis; neuroblast proliferation; neuromuscular process; potassium ion transmembrane transport; potassium ion transport; protein homooligomerization; regulation of membrane potential; regulation of muscle contraction; startle response; synaptic transmission

Disease: Episodic Ataxia, Type 1