NP_000317.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
36,474 Da
NCBI Official Full Name
retinaldehyde-binding protein 1
NCBI Official Synonym Full Names
retinaldehyde binding protein 1
NCBI Official Synonym Symbols
NCBI Protein Information
retinaldehyde-binding protein 1; cellular retinaldehyde-binding protein; cellular retinaldehyde-binding protein-1
UniProt Protein Name
Retinaldehyde-binding protein 1
UniProt Synonym Protein Names
Cellular retinaldehyde-binding protein
UniProt Synonym Gene Names
UniProt Entry Name
RLBP1_HUMAN
NCBI Summary for 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. [provided by RefSeq, Jul 2008]
UniProt Comments for RLBP1
RLBP1: 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'. Defects in RLBP1 are a cause of retinitis pigmentosa autosomal recessive (ARRP). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in RLBP1 are the cause of Bothnia retinal dystrophy (BRD); also known as Vasterbotten dystrophy. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. Defects in RLBP1 are the cause of rod-cone dystrophy Newfoundland (NFRCD). NFRCD is a retinal dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. Defects in RLBP1 are a cause of retinitis punctata albescens (RPA). A rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.
Chromosomal Location of Human Ortholog: 15q26
Cellular Component: cytosol
Molecular Function: transporter activity; 11-cis retinal binding; retinol binding
Biological Process: phototransduction, visible light; visual perception; transport; retinoid metabolic process; vitamin A metabolic process
Disease: Fundus Albipunctatus; Bothnia Retinal Dystrophy; Newfoundland Rod-cone Dystrophy
Research Articles on RLBP1
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Products associated with RLBP1 elisa kit
Pathways associated with RLBP1 elisa kit
Diseases associated with RLBP1 elisa kit
Organs/Tissues associated with RLBP1 elisa kit
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