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Article

Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.

The Journal of biological chemistry - 8 May 2020

Lima de Carvalho Jose Ronaldo, Kim Hye Jin, Ueda Keiko, Zhao Jin, Owji Aaron P, Yang Tingting, Tsang Stephen H, Sparrow Janet R

Abstract excerpt

Mutations in retinaldehyde-binding protein 1 (RLBP1), encoding the visual cycle protein cellular retinaldehyde-binding protein (CRALBP), cause an autosomal recessive form of retinal degeneration. By binding to 11-cis-retinoid, CRALBP augments the isomerase activity of retinoid isomerohydrolase RPE65 (RPE65) and facilitates 11-cis-retinol oxidation to 11-cis-retinal. CRALBP also maintains the 11-cis configuration...

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Identifiers

PMID: 32188692
DOI: 10.1074/jbc.RA120.012695
PMCID: PMC7212638

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