Defective RBP4 does not bind atROL

Stable Identifier
R-HSA-2466828
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region
ReviewStatus
5/5
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Defective RBP4 does not bind atROL
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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). Two missense mutations have been found to cause RBP deficiency, I45N and G75D (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
Input
Participates
as an event of
Normal reaction
RBP4 binds atROL (Homo sapiens)
Functional status

Loss of function of RBP4 mutants [extracellular region]

Normal Entity
Disease Entity
Status
Disease
Cross References
Mondo
Authored
Jassal, B  (2012-09-12)
Reviewed
Blaner, WS  (2013-01-31)
Created
Jassal, B  (2012-09-12)
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