Aliases for RLBP1 Gene
External Ids for RLBP1 Gene
Previous GeneCards Identifiers for 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for RLBP1 Gene
RLBP1 (Retinaldehyde Binding Protein 1) is a Protein Coding gene. Diseases associated with RLBP1 include Bothnia Retinal Dystrophy and Fundus Albipunctatus. Among its related pathways are Diseases associated with visual transduction and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transporter activity and 11-cis retinal binding. An important paralog of this gene is CLVS1.
UniProtKB/Swiss-Prot Summary for RLBP1 Gene
Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.