人 CACNA1F (NM_005183) cDNA克隆

Accession: NM_005183
基因名称: CACNA1F
基因别名: JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1
基因描述: Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), transcript variant 1, mRNA.
种属: Human
CDS区长度: 5934 (查看编码区序列)
翻译后氨基酸长度: 1977 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
产品编号 产品名称 载体 规格 价格
G164962 人 CACNA1F (NM_005183) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]