Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Together with its β-subunit OSTM1, ClC-7 performs 2Cl−/H+ exchange across lysosomal membranes. Pathogenic variants in either gene cause lysosome-related pathologies, including osteopetrosis and lysosomal storage. CLCN7 variants can cause recessive or dominant disease. Different variants entail diffe...

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Veröffentlicht in:	The Journal of biological chemistry 2024-07, Vol.300 (7), p.107437, Article 107437
Hauptverfasser:	Polovitskaya, Maya M., Rana, Tanushka, Ullrich, Kurt, Murko, Simona, Bierhals, Tatjana, Vogt, Guido, Stauber, Tobias, Kubisch, Christian, Santer, René, Jentsch, Thomas J.
Format:	Artikel
Sprache:	eng
Schlagworte:	chloride transport electrophysiology gating genetic disease neurodevelopmental disorder neurological disease organellar pH homeostasis organomegaly patch clamp vacuolar acidification
Online-Zugang:	Volltext
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