Aliases for RPGRIP1 Gene
External Ids for RPGRIP1 Gene
Previous HGNC Symbols for RPGRIP1 Gene
Previous GeneCards Identifiers for RPGRIP1 Gene
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
GeneCards Summary for RPGRIP1 Gene
RPGRIP1 (Retinitis Pigmentosa GTPase Regulator Interacting Protein 1) is a Protein Coding gene. Diseases associated with RPGRIP1 include cone-rod dystrophy 13 and leber congenital amaurosis 6. An important paralog of this gene is RPGRIP1L.
UniProtKB/Swiss-Prot for RPGRIP1 Gene
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.