CRALBP

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'.

Involvement in disease

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.

None

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.

None

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.

None

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.

Cellular localization

• Cytoplasm

Alternative names

• Retinaldehyde-binding protein 1
• Cellular retinaldehyde-binding protein
• RLBP1
• CRALBP

Database links

• entrezGene:6017
• omim:180090
• swissprot:P12271

Target type

Proteins

Molecular weight

36474Da