A genetic clog in the vitamin A transport machinery.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 25910203.
- Also identified by DOI 10.1016/j.cell.2015.04.020.
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Abstract
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.
Medical subject headings
- Eye Diseases, Hereditary
- Mutation, Missense
- Retinol-Binding Proteins, Plasma