TRPML1 is a member of the Transient Receptor Potential (TRP) superfamily of ion channels, and mutation in the human TRPML1 gene causes mucolipidosis, symptoms of which include anaemia. It is shown that TRPML1 functions as a Fe2+-permeable channel in lysosomes, and that disease-associated mutations impair Fe2+transport, suggesting that impaired iron transport may underlie symptoms of mucolipidosis.
- Xian-Ping Dong
- Xiping Cheng
- Haoxing Xu
