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Reference.org
RPGRIP1
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<p>X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a <a href="/facts/Protein/Jxmagu3E">protein</a> in the <a href="/facts/Cilium/C9l436HM">ciliary transition zone</a> that in humans is encoded by the <i>RPGRIP1</i> <a href="/facts/Gene/e1swwPY6">gene</a>. RPGRIP1 is a <a href="/facts/Protein_quaternary_structure/ukuyKJfj">multi-domain protein</a> containing a <a href="/facts/Coiled_coil/U0YEzcB4">coiled-coil domain</a> at the <a href="/facts/N-terminus/yKYpuaBJ">N-terminus</a>, two <a href="/facts/C2_domain/3jDKLmtx">C2 domains</a> and a <a href="/facts/C-terminus/ws4scHgT">C-terminal</a> RPGR-interacting domain (RID). Defects in the gene result in the <a href="/facts/Leber%2527s_congenital_amaurosis/Rf0UwPPW">Leber congenital amaurosis</a> (LCA) syndrome and in the eye disease <a href="/facts/Glaucoma/MWqWVNz3">glaucoma</a>. </p>