LMPD Database

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LMP001843

UniProt Annotations

Entry Information
Gene Nameretinaldehyde binding protein 1
Protein EntryRLBP1_HUMAN
UniProt IDP12271
SpeciesHuman
Comments
Comment typeDescription
DiseaseBothnia retinal dystrophy (BRD) [MIM
DiseaseRetinitis pigmentosa autosomal recessive (ARRP) [MIM
DiseaseRetinitis punctata albescens (RPA) [MIM
DiseaseRod-cone dystrophy Newfoundland (NFRCD) [MIM
FunctionSoluble 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'.
SimilarityContains 1 CRAL-TRIO domain. {ECO
Subcellular LocationCytoplasm.
Tissue SpecificityRetina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina.
Web ResourceName=Mutations of the RLBP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cralbp.htm";