Ontology highlight
ABSTRACT:
SUBMITTER: Leisle L
PROVIDER: S-EPMC3117652 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Leisle Lilia L Ludwig Carmen F CF Wagner Florian A FA Jentsch Thomas J TJ Stauber Tobias T
The EMBO journal 20110428 11
Mutations in the ClC-7/Ostm1 ion transporter lead to osteopetrosis and lysosomal storage disease. Its lysosomal localization hitherto precluded detailed functional characterization. Using a mutated ClC-7 that reaches the plasma membrane, we now show that both the aminoterminus and transmembrane span of the Ostm1 β-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. ClC-7/Ostm1 currents were strongly ...[more]