Defective RBP4 does not bind atROL

Stable Identifier
R-HSA-2466828
Type
Reaction [transition]
Species
Homo sapiens
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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
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
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
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