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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Channel, potassium
Chromosomal Location of Human Ortholog: 12p13.32
Cellular Component: voltage-gated potassium channel complex; cell surface; endoplasmic reticulum; integral to plasma membrane; dendrite; paranode region of axon; integral to membrane; cytosol; presynaptic membrane; cell soma; apical plasma membrane; plasma membrane; synapse; nerve terminal; cell junction
Biological Process: detection of mechanical stimulus involved in sensory perception of pain; synaptic transmission; regulation of membrane potential; regulation of muscle contraction; neuromuscular process; generation of action potential; detection of mechanical stimulus involved in sensory perception of touch; potassium ion transport; protein homooligomerization
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.