This gene encodes a protein with a series of six RCC1-likendomains (RLDs), characteristic of the highly conserved guaninennucleotide exchange factors. The encoded protein is found in thenGolgi body and interacts with RPGRIP1. This protein localizes tonthe outer segment of rod photoreceptors and is essential for theirnviability. Mutations in this gene have been associated withnX-linked retinitis pigmentosa (XLRP). Multiple alternativelynspliced transcript variants that encode different isoforms of thisngene have been reported, but the full-length natures of only somenhave been determined.
应用类型
WB
免疫原
This RPGR antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 744-772 amino acids of human RPGR.
