RETINAL CALCIUM CHANNEL (ALPHA)1F-SUBUNIT GENE

摘要

This present invention relates to calcium channel compositions. In particular, this invention relates to a mammalian gene, herein referred to as CACNA1F, encoding an (alpha)1F-subunit of a retinal calcium channel. Mutations of CACNA1F may cause a type of X-linked congenital stationary night blindness known as incomplete CSNB, and may also cause Aaland Island Eye Disease, which may be clinically indistinguishable from incomplete CSNB.