基因名:
RHO
产品别名:
CSNBAD1; OPN2; RP4; RHO; rhodopsin; rhodopsin; rhodopsin; opsin 2, rod pigment; opsin-2; 磷酸化视网膜色素变性蛋白4; 视紫质(RHO); 视网膜色素变性蛋白4;
背景信息:
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]