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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.
Protein class
Disease related genes, Human disease related genes, Metabolic proteins
Predicted location
Intracellular
Single cell type specificity
Cell type enriched (Muller glia cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enriched (SK-MEL-30)
Interaction
Interacts with DEGS1; the interaction increases synthesis of chromophore-precursors by DEGS1.
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Human, Mouse, Rat
- Type: IgG
- Application: WB, IP
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- Species Reactivity: Human
- Application: WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: WB, FC, IHC
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For Research Use Only. Not For Clinical Use.