RLBP1 gene

retinaldehyde binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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'.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Pigmentary retinal dystrophy
  • Bothnia retinal dystrophy
  • Newfoundland rod-cone dystrophy

From UniProt:

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. [MIM:607475]

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. [MIM:607476]

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. [MIM:136880]

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1

Molecular Location: base pairs 89,209,869 to 89,223,179 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1