SCN8A(redirected from hNa6/Scn8a voltage-gated sodium channel)
SCN8AA gene on chromosome 12q13 that encodes an alpha subunit of the voltage-gated sodium channel, which mediates voltage-dependent sodium ion permeability of excitable membranes. The SCN8A protein product is required for rapid membrane depolarisation, resulting in action potentials in excitable neurones.
SCN8A mutations are associated with mental retardation, pancerebellar atrophy and ataxia.
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