Disease:Defects in RHO are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. ,Disease:Defects in RHO are the cause of congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]; also known as rhodopsin-related congenital stationary night blindness. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. ,Disease:Defects in RHO are the cause of retinitis pigmentosa type 4 (RP4) [MIM:180380]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses , they lose their far peripheral visual field and eventually central vision as well. RP4 inheritance is autosomal dominant. ,Function:Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal. ,online information:Retina International's Scientific Newsletter ,online information:Rhodopsin entry ,online information:Rhodopsin mutations page ,PTM:Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. ,similarity:Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. ,tissue specificity:Rod shaped photoreceptor cells which mediates vision in dim light. ,
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