Entrez gene ID | | 57096 |
Official gene symbol | | RPGRIP1 |
Full name | | retinitis pigmentosa GTPase regulator interacting protein 1 |
Aliases | | ,CORD13,DKFZp686P0897,LCA6,RGI1,RGRIP,RPGRIP,RPGRIP1d, |
Gene summary | | 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] |
Location | | Chromosome: 14 Locus: 14q11 |
Gene position | | 21756136 - 21819460 Map Viewer |
Gene orientation | | plus |
Gene size | | 63325 bp |
Gene sequence |
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OMIM ID | | 605446 |