CACNA2D4
The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type.
Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses.
Pathology
germline mutations in autosomal recessive cone dystrophy.
References
Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7. PMID: #17033974#