This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SCN8A-20-RE | 20 (40 μL) | 200 μL |  |
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| SCN8A-20-OR | 20 (40 μL) | 200 μL |  |
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| SCN8A-20-GO | 20 (40 μL) | 200 μL |  |
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| SCN8A-20-GR | 20 (40 μL) | 200 μL |  |
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| SCN8A-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Symbol : SCN8A
Gene Name : Sodium voltage-gated channel alpha subunit 8
Chromosome : CHR 12: 515,899,58-518,128,64
Locus : 12q13.13
Alt. Genes : PLXNC1
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