RLBP1 Back

retinaldehyde binding protein 1

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NCBI Description of RLBP1
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. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Community Annotation of RLBP1 Add / Edit RLBP1: Annotations

No community annotations yet for RLBP1.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RLBP1 is highly significantly mutated in
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RLBP1 is significantly mutated in
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RLBP1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for RLBP1