人 GJB3 (NM_024009) cDNA克隆

Accession: NM_024009
基因名称: GJB3
基因别名: EKV; CX31; DFNA2; DFNA2B
基因描述: Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 813 (查看编码区序列)
翻译后氨基酸长度: 270 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
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G100946 人 GJB3 (NM_024009) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]