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 Signaling by GPCR and Metabolism of fat-soluble vitamins. 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'.