Retinal calcium channel (alpha)1f-subunit gene

Details Retinal calcium channel (alpha)1f-subunit gene Retinal calcium channel (alpha)1f-subunit gene

Category

C - Chemistry, Metallurgy

Subcategory

12

Subsubcategory

N

IPC codes

C12N 15/12 (2006.01) C07K 14/705 (2006.01) C12N 15/62 (2006.01) C12Q 1/68 (2006.01)

Type

Patent

Patent number

CA 2299611

Description

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.

La présente invention concerne des compositions du canal calcique. En particulier, l'invention traite d'un gène de mammifère, désigné par CACNA1F, codant une sous-unité (alpha)¿1? d'un canal calcique rétinal. Les mutations du gène CACNA1F peuvent provoquer une cécité nocturne congénitale stationnaire liée au chromosome X, dite également cécité incomplète, et peuvent également être à l'origine du syndrome de Forsius-Eriksoson, qui d'un point de vue clinique, ne se distingue pas de la cécité nocturne congénitale stationnaire incomplète.

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