Ontology highlight
ABSTRACT:
SUBMITTER: Chubanov V
PROVIDER: S-EPMC365716 | biostudies-literature | 2004 Mar
REPOSITORIES: biostudies-literature
Chubanov Vladimir V Waldegger Siegfried S Mederos y Schnitzler Michael M Vitzthum Helga H Sassen Martin C MC Seyberth Hannsjörg W HW Konrad Martin M Gudermann Thomas T
Proceedings of the National Academy of Sciences of the United States of America 20040219 9
Impaired magnesium reabsorption in patients with TRPM6 gene mutations stresses an important role of TRPM6 (melastatin-related TRP cation channel) in epithelial magnesium transport. While attempting to isolate full-length TRPM6, we found that the human TRPM6 gene encodes multiple mRNA isoforms. Full-length TRPM6 variants failed to form functional channel complexes because they were retained intracellularly on heterologous expression in HEK 293 cells and Xenopus oocytes. However, TRPM6 specificall ...[more]