The Role of the Lysosomal Cl^-/H⁺ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.

ABSTRACT: CLC proteins comprise Cl^- channels and anion/H⁺ antiporters involved in several fundamental physiological processes. ClC-7 is a lysosomal Cl^-/H⁺ antiporter that together with its beta subunit Ostm1 has a critical role in the ionic homeostasis of lysosomes and of the osteoclasts' resorption lacuna, although the specific underlying mechanism has so far remained elusive. Mutations in ClC-7 cause osteopetrosis, but also a form of lysosomal storage disease and neurodegeneration. Interestingly, both loss-of- and gain-of-function mutations of ClC-7 can be pathogenic, but the mechanistic implications of this finding are still unclear. This review will focus on the recent advances in our understanding of the biophysical properties of ClC-7 and of its role

SUBMITTER: Zifarelli G 

PROVIDER: S-EPMC8833911 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature