RLBP1

Chr 15q26.1

retinaldehyde binding protein 1

Aliases:: CRALBP
MANE:: ENST00000268125.10

OMIM: 180090 ↗NCBI: 6017 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RLBP1 · P12271

v62025-08-01

Predicted Aligned Error matrix for RLBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.5/ 100

Very high

317 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bothnia retinal dystrophy
0.73
fundus albipunctatus
0.71
Newfoundland cone-rod dystrophy
0.71
retinitis pigmentosa
0.70
retinitis punctata albescens
0.70
Retinal dystrophy
0.52
Joubert syndrome and related disorders
0.51
autosomal recessive retinitis pigmentosa
0.46
RLBP1-related retinopathy
0.37
Alpers syndrome
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinaldehyde-binding protein 1

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'