Recombinant Human Retinaldehyde-binding protein 1 (RLBP1)

Function

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'

Subcellular Location

Cytoplasm

Disease Association

Bothnia retinal dystrophy (BRD) : A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. [The disease is caused by variants affecting the gene represented in this entry] | Rod-cone dystrophy Newfoundland (NFRCD) : A rod-cone 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. [The disease is caused by variants affecting the gene represented in this entry] | Retinitis punctata albescens (RPA) : A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Retina 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

Subunit

Interacts with DEGS1; the interaction increases synthesis of chromophore-precursors by DEGS1

• Crabb J.W. et al. Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures. — J. Biol. Chem. (1988)
• Intres R. et al. Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. — J. Biol. Chem. (1994)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Crabb J.W. et al. Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. — Protein Sci. (1998)
• Eichers E.R. et al. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. — Am. J. Hum. Genet. (2002)
• He X. et al. Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. — Proc. Natl. Acad. Sci. U.S.A. (2009)