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X-linked retinitis pigmentosa GTPase regulator-interacting protein

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May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.

Below are the list of possible X-linked retinitis pigmentosa GTPase regulator-interacting protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 ELISA Kit
 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Recombinant
 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Antibody
Also known as X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGR-interacting protein 1).
RPGRIP1: Essential for RPGR function and is also required for normal disk morphogenesis. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherit
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ed 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. Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13). An inherited retinal dystrophy 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. Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Belongs to the RPGRIP1 family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 14q11

Cellular Component: photoreceptor connecting cilium

Molecular Function: protein binding

Disease: Cone-rod Dystrophy 13; Leber Congenital Amaurosis 6
 RPGRIP1 ELISA Kit
 RPGRIP1 Recombinant
 RPGRIP1 Antibody
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