Recombinant Human RPE65, MYC/DDK-tagged

• Cat.No.: RPE65-246H
• Product Overview: Recombinant Human RPE65, fused with C-terminal MYC/DDK, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293 cells
• Species: Human
• Tag: MYC/DDK
• Molecular Mass: 60.8 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method
• Storage Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.

Gene Information

• Gene Name: RPE65 retinal pigment epithelium-specific protein 65kDa [ Homo sapiens (human) ]
• Official Symbol: RPE65
• Synonyms: RPE65; retinal pigment epithelium-specific protein 65kDa; retinal pigment epithelium specific protein (65kD) , RP20; retinoid isomerohydrolase; all trans retinyl palmitate hydrolase; LCA2; rd12; retinol isomerase; p63; RBP-binding membrane protein; all-trans-retinyl-palmitate hydrolase; retinitis pigmentosa 20 (autosomal recessive); retinal pigment epithelium-specific 65 kDa protein; RP20; mRPE65; sRPE65
• Gene ID: 6121
• mRNA Refseq: NM_000329
• Protein Refseq: NP_000320
• MIM: 180069
• UniProt ID: Q16518
• Chromosome Location: 1p31
• Pathway: Diseases associated with visual transduction; Retinol metabolism; Visual signal transduction: Rods
• Function: all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity; metal ion binding; retinal isomerase activity