Retinoid metabolism in retina: healthy vs. RLBP1-deficient (WP5532)

Homo sapiens

Open in new tab Open in Newt (SBGN)
Download PNG Download SVG Download JSON Download GPML Learn more about Downloads

RLBP1 encodes CRALBP, a cellular retinaldehyde-binding protein that functions as a soluble retinoid carrier in the visual cycle of the eye. Mutations in RLBP1 are linked to recessively inherited conditions, such as Bothnia dystrophy, retinitis pigmentosa, retinitis punctata albescens, fundus albipunctatus, and Newfoundland rod-cone dystrophy.

Authors

Eric Weitz

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Annotations

Cell Type Ontology

retinal pigment epithelial cell Mueller cell retinal rod cell compound eye cone cell

Disease Ontology

retinitis pigmentosa Newfoundland cone-rod dystrophy fundus albipunctatus

Participants
Query Drugst.One

Label Type Compact URI Comment
11cisRE Metabolite chebi:195358
atRE Metabolite chebi:63410
atROL Metabolite chebi:17336
11cisROL Metabolite chebi:46856
atRAL Metabolite chebi:17898
11cisRAL Metabolite chebi:16066
RLBP1 GeneProduct ensembl:ENSG00000140522 'Cralbpa' in source

References

  1. Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina. Schlegel DK, Ramkumar S, von Lintig J, Neuhauss SC. Elife. 2021 Oct 20;10:e71473. PubMed Europe PMC Scholia