RPGR

Aliases 
CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1
Chromosomal Locations 
Xp21.1

 

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1.
 
This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). 
 
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. [provided by RefSeq, Dec 2008]

 

Description 
X-linked retinitis pigmentosa GTPase regulator; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator
Tests 
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)