人 SCN8A (NM_001177984) cDNA克隆

Accession: NM_001177984
基因名称: SCN8A
基因别名: MED; PN4; CIAT; NaCh6; CERIII; EIEE13; Nav1.6
基因描述: Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 2, mRNA.
种属: Human
CDS区长度: 5820 (查看编码区序列)
翻译后氨基酸长度: 1939 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
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G157546 人 SCN8A (NM_001177984) cDNA克隆 pDONR223 2ug质粒 点击询价

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 mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]