- accession:NM_000329
- 基因别名:RPE65
- 基因描述:Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.
- 载体:现货载体
- CDS区长度:1602
- 翻译后氨基酸长度:533
- 基因简介:This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]
- 载体信息:自有图片地址
- 规格:10ul 质粒
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