Entrez 6017 | Ensembl ENSG00000140522 | |
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External IDs MGI: 97930 HomoloGene: 68046 GeneCards: RLBP1 |
Retinaldehyde-binding protein 1 is a protein that in humans is encoded by the RLBP1 gene.
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens.
References
Retinaldehyde-binding protein 1 Wikipedia(Text) CC BY-SA