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- accession：NM_000328
- 基因别名：RPGR
- 基因描述：Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA.
- 载体：现货载体
- CDS区长度：2448
- 翻译后氨基酸长度：815
- TranscriptVariant：This variant (A) uses an alternate splice site and contains multiple alternative exons in the 3' coding region, compared to variant C. The resulting isoform (A, also referred to as isoform 1) is shorter and has a distinct C-terminus, compared to isoform C.
- 基因简介：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. [provided by RefSeq, Dec 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
