{"symbol":"RPGRIP1","synonyms":["CORD13","LCA6","RPGRIP","RPGRIP1D","RGI1","RGRIP"],"name":"retinitis pigmentosa GTPase regulator interacting protein 1","description":"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]","ncbiEntrezGeneId":57096,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57096","proteins":[{"symbol":"RPGR1_HUMAN","href":"/api/1.0/protein/RPGR1_HUMAN"}],"hgncRootFamilies":[{"name":"C2 domain containing","href":"/api/1.0/gene_family/C2+domain+containing"}]}