A missense mutation accelerating the gating of the lysosomal Cl−/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

• Main Authors: Arnaud Sartelet (Author), Tobias Stauber (Author), Wouter Coppieters (Author), Carmen F. Ludwig (Author), Corinne Fasquelle (Author), Tom Druet (Author), Zhiyan Zhang (Author), Naima Ahariz (Author), Nadine Cambisano (Author), Thomas J. Jentsch (Author), Carole Charlier (Author)
• Format: Book
• Published: The Company of Biologists, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in mi...