Retinoid metabolism disease events

Stable Identifier
R-HSA-6809583
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Retinoid metabolism disease events
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Retinol binding protein (RBP4) delivers all-trans-retinol (atROL) from liver stores to peripheral tissues. Defects in RBP4 cause retinol-binding protein deficiency (RBP deficiency, MIM:180250), causing night vision problems and a typical 'xerophthalmic fundus' with progressive atrophy of the retinal pigment epithelium (RPE) (Seeliger et al. 1999, Biesalski et al. 1999).
Literature References
PubMed ID Title Journal Year
9888420 Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

Seeliger, MW, Biesalski, HK, Wissinger, B, Gollnick, H, Gielen, S, Frank, J, Beck, S, Zrenner, E

Invest. Ophthalmol. Vis. Sci. 1999
10232633 Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein

Biesalski, HK, Frank, J, Beck, SC, Heinrich, F, Illek, B, Reifen, R, Gollnick, H, Seeliger, MW, Wissinger, B, Zrenner, E

Am. J. Clin. Nutr. 1999
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
retinal disease DOID:5679 Retinopathy (disorder), Retinal disorder, retina disorder
Cross References
Mondo
Authored
Jassal, B  (2012-08-17)
Reviewed
Blaner, WS  (2013-01-31)
Created
Jassal, B  (2015-11-12)
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