Literature associating RPGRIP1 and achromatopsia 2
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; 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; Belongs to the RPGRIP1 family.
Synonyms: RPGRIP1, RPGRIP1p, hRPGRIP1, G3V236, G3V3F7 ...