Retinitis pigmentosa GTPase regulator


X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.

Function

This gene encodes a protein with a series of six RCC1-like domains, characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa. Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.

Interactions

Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D nephronophthisis proteins and RPGRIP1.