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Reconstitute with 0.2 mL of distilled water to yield a concentration of 500 µg/mL.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; X-linked retinitis pigmentosa GTPase regulator
基因别名: COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; RPGR; XLRP3
UniProt ID: (Human) Q92834
Entrez Gene ID: (Human) 6103, (Rat) 367733