Specifications
Immunogen
CACNA1F (NP_005174, 1878 a.a. ~ 1977 a.a) partial recombinant protein with GST tag. The sequence is LHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMD NAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
Target
Alternative Names
CACNA1F; calcium channel, voltage-dependent, L type, alpha 1F subunit; JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1; voltage-dependent L-type calcium channel subunit alpha-1F; voltage-gated calcium channel s
Product Background
Antigen Description
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.
Pathway
Adrenergic signaling in cardiomyocytes; Alzheimers disease; Alzheimers Disease; Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Citations
Publication ()
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