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).
Seeliger, MW, Zrenner, E, Gollnick, H, Gielen, S, Wissinger, B, Beck, S, Biesalski, HK, Frank, J
Seeliger, MW, Zrenner, E, Heinrich, F, Gollnick, H, Wissinger, B, Reifen, R, Biesalski, HK, Frank, J, Beck, SC, Illek, B
Loss of function of RBP4 mutants [extracellular region]
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