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The Role of the Lysosomal Cl−/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration
- Source :
- Cells, Vol 11, Iss 366, p 366 (2022), Cells 11 (2022). doi:10.3390/cells11030366, info:cnr-pdr/source/autori:Zifarelli, Giovanni/titolo:The Role of the Lysosomal Cl-%2FH+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration/doi:10.3390%2Fcells11030366/rivista:Cells/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
- Publication Year :
- 2022
- Publisher :
- MDPI AG, 2022.
-
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 in human diseases with a focus on osteopetrosis and neurodegeneration.
Details
- Language :
- English
- ISSN :
- 20734409
- Volume :
- 11
- Issue :
- 366
- Database :
- OpenAIRE
- Journal :
- Cells
- Accession number :
- edsair.doi.dedup.....9707a42a25e1192c12496b1e200f1d2d