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

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Description

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.

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Ontology Terms

 

Bibliography

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

History

View all...
CompareRevisionActionTimeUserComment
138396view20:23, 5 April 2025EweitzBold 11cisRE, connect unhealthy rod cell atRAL to MGC complex
138357view23:46, 31 March 2025EweitzRefine interactions
138356view23:44, 31 March 2025EweitzOntology Term : 'Newfoundland cone-rod dystrophy' added !
138355view23:43, 31 March 2025EweitzOntology Term : 'fundus albipunctatus' added !
138354view23:43, 31 March 2025EweitzOntology Term : 'retinitis pigmentosa' added !
138353view23:42, 31 March 2025EweitzOntology Term : 'Mueller cell' added !
138352view23:42, 31 March 2025EweitzOntology Term : 'retinal pigment epithelial cell' added !
138351view23:42, 31 March 2025EweitzOntology Term : 'compound eye cone cell' added !
138350view23:42, 31 March 2025EweitzOntology Term : 'retinal rod cell' added !
138349view23:41, 31 March 2025EweitzModified title
138348view23:41, 31 March 2025EweitzModified description
138347view23:39, 31 March 2025EweitzAdd literature reference
138346view23:37, 31 March 2025EweitzClarify deficiency
138345view23:25, 31 March 2025EweitzDuplicate for comparison group
138344view23:13, 31 March 2025EweitzLabel cell types
138341view12:47, 31 March 2025EweitzNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
11cisRALMetaboliteCHEBI:16066 (ChEBI)
11cisREMetaboliteCHEBI:195358 (ChEBI)
11cisROLMetaboliteCHEBI:46856 (ChEBI)
RLBP1GeneProductENSG00000140522 (Ensembl) "Cralbpa" in source
atRALMetaboliteCHEBI:17898 (ChEBI)
atREMetaboliteCHEBI:63410 (ChEBI)
atROLMetaboliteCHEBI:17336 (ChEBI)

Annotated Interactions

No annotated interactions

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