RPE65 (NM_000329) Human Mass Spec Standard

CAT#: PH310433

RPE65 MS Standard C13 and N15-labeled recombinant protein (NP_000320)

  View other "RPE65" proteins (3)

USD 2,055.00

3 Weeks*

Size
    • 10 ug

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Specifications

Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC210433
Predicted MW 61.4 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration 50 ug/ml as determined by BCA
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_000320
RefSeq Size 2608
RefSeq ORF 1599
Synonyms BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65
Locus ID 6121
UniProt ID Q16518
Cytogenetics 1p31.3
Summary 'The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]'
Protein Families Druggable Genome
Protein Pathways Retinol metabolism

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