功能： disease:Defects in RPGRIP1 are the cause of cone-rod dystrophy type 9 (CORD9) [MIM:608194]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.,disease:Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) [MIM:605446]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.,function:Essential for RPGR function and is also required for normal disk morphogenesis.,similarity:Belongs to the RPGRIP1 family.,similarity:Contains 1 C2 domain.,subcellular location:Situated between the axonemal microtubules and the plasma membrane.,subunit:Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR.,tissue specificity:Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell projection, cilium . Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity). .
组织表达： Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.
功能： disease:Defects in RPGRIP1 are the cause of cone-rod dystrophy type 9 (CORD9) [MIM:608194]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.,disease:Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) [MIM:605446]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.,function:Essential for RPGR function and is also required for normal disk morphogenesis.,similarity:Belongs to the RPGRIP1 family.,similarity:Contains 1 C2 domain.,subcellular location:Situated between the axonemal microtubules and the plasma membrane.,subunit:Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR.,tissue specificity:Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell projection, cilium . Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity). .
组织表达： Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.
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