FIGURE: 1 / 12
This antibody can recognize all the isoforms of RPGR.
Immunogen sequence: MREPEELMP DSGAVFTFGK SKFAENNPGK FWFKNDVPVH LSCGDEHSAV VTGNNKLYMF GSNNWGQLGL GSKSAISKPT CVKALKPEKV KLAACGRNHT LVSTEGGNVY ATGGNNEGQL GLGDTEERNT FHVISFFTSE HKIKQLSAGS NTSAALTEDG RLFMWGDNSE GQIGLKNVSN VCVPQQVTIG KPVSWISCGY YHSAFVTTDG ELYVFGEPEN GKLGLPNQLL GNHRTPQLVS EIPEKVIQVA CGGEHTVVLT ENAVYTFGLG QFGQLGLGTF LFETSEPKVI ENIRDQTISY ISCGENHTAL ITDIGLMYTF GDGRHGKLGL GLENFTNHFI PTLCSNFLRF IVKLVACGGC (1-359 aa encoded by BC031624)
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.
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Protein Aliases: mRpgr; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; X-linked retinitis pigmentosa GTPase regulator
Gene Aliases: COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; Rp3h; RPGR; XLRP3
Molecular Function: ubiquitin-protein ligase