A Genetic Clog in the Vitamin A Transport Machinery

作者：Zhong Ming; Sun Hui^*

来源：Cell, 2015, 161(3): 435-437.

DOI：10.1016/j.cell.2015.04.020

Chou et al. discover a new mode of maternal inheritance by analyzing human mutations in plasma retinol binding protein (RBP). Mechanistically, these mutations simultaneously lower RBP's affinity for vitamin A and greatly increase its affinity for its cell-surface receptor, thus dominantly blocking the transmembrane transport of vitamin A.

• 出版日期2015-4-23