Species Human Entrez 6103 | Human Mouse Ensembl ENSG00000156313 | |
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Aliases RPGR, COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15, Retinitis pigmentosa GTPase regulator External IDs MGI: 1344037 HomoloGene: 55455 GeneCards: RPGR | ||
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.
Contents
Function
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. 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.
Interactions
Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D nephronophthisis (NPHP) proteins and RPGRIP1.
References
Retinitis pigmentosa GTPase regulator Wikipedia(Text) CC BY-SA