So, while loss-of-function and gain-of-function mutations in ClC-7 can cause diverse clinical phenotypes, such as osteopetrosis, neurodegenerative lysosomal storage disease, myelination defects and albinism, their pathomechanisms share an impairment of lysosomal function and autophagic flux. Here, CLCN7 is linked to osteopetrosis.