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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.
Gene Name: | retinitis pigmentosa GTPase regulator interacting protein 1 |
Synonyms: | RPGRIP1, CORD13, RGI1, RPGR-interacting protein 1, RPGRIP1d, RGRIP, LCA6, RPGRIP |
Target Sequences: | NM_020366 NP_065099.3 Q96KN7 |
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