基因名称(Gene Name)
CACNA1F CACNAF1
蛋白名称
Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)
免疫原
Synthesized peptide derived from human protein . at AA range: 140-220
特异性
CAC1F Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
calcium voltage-gated channel subunit alpha1 F(CACNA1F) Homo sapiens 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],
功能
disease:Defects in CACNA1F are the cause of Aaland island eye disease (AIED) [MIM:300600]; also called Forsius-Eriksson type ocular albinism. On the Aaland island in the Baltic Sea, AIED is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.,disease:Defects in CACNA1F are the cause of cone-rod dystrophy X-linked type 3 (CORDX3) [MIM:300476]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantl
