The KCNV2 (potassium channel, subfamily V, member 2) gene is mapped to human chromosome 9p24.2. KCNV2 is highly expressed in retinal photoreceptors. It encodes a modulatory subunit of the Kv8.2, voltage-gated potassium channel.
Synonyms: Anti-Kv8.2; Anti-potassium channel, subfamily V, member 2
Storage: -20C
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Biochem Physiol Actions: KCNV2 (potassium channel, subfamily V, member 2) significantly influences the initiation and shaping of action potentials. KCNV2 mutations might lead to febrile, afebrile partial seizures, and epileptic encephalopathy. Alterations in KCVN2 gene might cause an abnormality in photoreceptor membrane potentials by inhibiting proper assembly of heteromeric voltage-gated potassium channels following a pathologically sustained outward potassium current in the dark. Mutation in the gene causes cone dystrophy with supernormal rod responses.
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