Gene Symbol | RPGRIP1 |
Entrez Gene ID | 57096 |
Full Name | RPGR interacting protein 1 |
Synonyms | CORD13,LCA6,RGI1,RGRIP,RPGRIP,RPGRIP1d |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Leber congenital amaurosis 6, 613826 (3); Cone-rod dystrophy 13, 608194 (3) |