Prph2

Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study partial central choroid dystrophy; patterned macular dystrophy 1; and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2). [provided by Alliance of Genome Resources, Nov 2024]

赋予蛋白质同源二聚化活性。在多个过程中发挥上游作用或存在于其中，包括参与视觉感知的光刺激检测；光感受器细胞外节组织；以及蛋白质复合物寡聚化。定位于光感受器外节。在眼球、头部、视网膜及其外层核层中表达。用于研究部分中央脉络膜变性；图样黄斑变性1；以及色素性视网膜炎7。本基因的人类同源基因与利伯先天性黑蒙、眼退行性疾病（多种）和眼底白点症有关。与人类PRPH2（周边蛋白2）同源。[由基因组资源联盟提供，2024年11月]