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Immunogen sequence: EINDTCLSVA TFLPYSSLTS GNVLQRTLSA RMRRRERERS PDSFSMRRTL PPIEGTLGLS ACFLPNSVFP RCSERNLQES VLSEQDLMQP EEPDYLLDEM TKEAEIDNSS TVESLGETTD ILNMTHIMSL N
Highest antigen sequence identity to the following orthologs: Mouse - 46%, Rat - 41%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; X-linked retinitis pigmentosa GTPase regulator
Gene Aliases: COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; RPGR; XLRP3
UniProt ID: (Human) Q92834
Entrez Gene ID: (Human) 6103
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