Retinoid metabolism in retina: healthy vs. RLBP1-deficient (WP5532)
Homo sapiens
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 WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Cell Type Ontology
Mueller cell retinal pigment epithelial cell compound eye cone cell retinal rod cellDisease Ontology
retinitis pigmentosa Newfoundland cone-rod dystrophy fundus albipunctatusLabel | Type | Compact URI | Comment |
---|---|---|---|
11cisRE | Metabolite | chebi:195358 | |
atRE | Metabolite | chebi:63410 | |
atROL | Metabolite | chebi:17336 | |
11cisROL | Metabolite | chebi:46856 | |
atRAL | Metabolite | chebi:17898 |
References
- 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