4QAM5709677945ENSG00000092200ENSMUSG00000057132Q96KN7Q9EPQ2NM_001377951NM_001168515NM_023879NP_001364880NP_001161987NP_076368X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene.
Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome[7] and in the eye disease glaucoma.
[8] RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.
[9] RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a C2 domain architecture and interacts with RPGR at three different locations: A β strand of the RID interacting with the large loop of RPGR, at a hydrophobic interaction site, and via the N-terminal region of the RID.
This article on a gene on human chromosome 14 is a stub.