视蛋白
中文名称
通路描述
视蛋白是视网膜感光细胞中属于视黄醛蛋白家族的 35-55 kDa 膜结合 G 蛋白偶联受体。五种经典视蛋白组参与视觉,介导光子转化为电化学生物的信号,这是视觉转导级联的第一步(Terakita A,2005;Nickle B 和 Robinson PR,2007)。另一种存在于哺乳动物视网膜中的视蛋白,即视杆素,参与昼夜节律和瞳孔反射,但不参与成像(Hankins MW 等,2008;Kumbalasiri T 和 Provencio I,2005)。鸟苷酸结合蛋白(G 蛋白)作为各种跨膜信号系统的调节者或转导者发挥作用。视杆转导素,由 GNAT 基因编码,是视觉冲动转导者之一,负责将视紫红质与 cGMP-磷酸二酯酶之间的耦合。GNAT1 缺陷导致先天性静止夜盲症,也称为先天性静止夜盲症 Nougaret 型。先天性静止夜盲症是一种非进行性视网膜疾病,表现为夜视能力受损(Dryja TP 等,1996)。GNAT2 缺陷导致色盲型 4(ACHM4)。色盲是一种常染色体隐性遗传的视觉疾病,从出生起存在,其特征是缺乏颜色辨别(Kohl S 等,2002)。
英文描述
Opsins Opsins are light-sensitive, 35-55 kDa membrane-bound G protein-coupled receptors of the retinylidene protein family found in photoreceptor cells of the retina. Five classical groups of opsins are involved in vision, mediating the conversion of a photon of light into an electrochemical signal, the first step in the visual transduction cascade (Terakita A, 2005; Nickle B and Robinson PR, 2007). Another opsin found in the mammalian retina, melanopsin, is involved in circadian rhythms and pupillary reflex but not in image-forming (Hankins MW et al, 2008; Kumbalasiri T and Provencio I, 2005). Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G protein transducin, encoded by GNAT genes, is one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3, also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision (Dryja TP et al, 1996). Defects in GNAT2 are the cause of achromatopsia type 4 (ACHM4). Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination (Kohl S et al, 2002).
所含基因
9 个基因