4.6 Article

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

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CELLS
卷 11, 期 3, 页码 -

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MDPI
DOI: 10.3390/cells11030366

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chloride transport; proton transport; organellar transporter; lysosomal storage disease; osteopetrosis; bone; lysosome; osteoclast

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CLC proteins, including Cl- channels and anion/H+ antiporters, play critical roles in various physiological processes. ClC-7, as a lysosomal Cl-/H+ antiporter, is crucial for the ionic homeostasis in lysosomes and osteoclasts' resorption lacuna. Mutations in ClC-7 can lead to osteopetrosis, lysosomal storage disease, and neurodegeneration.
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 in human diseases with a focus on osteopetrosis and neurodegeneration.

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