The gene clcn7 in Strongylocentrotus purpuratus encodes a chloride channel protein that functions in chloride ion transport across membranes and is involved in lysosomal acidification. The protein is a...[+]

The gene clcn7 in Strongylocentrotus purpuratus encodes a chloride channel protein that functions in chloride ion transport across membranes and is involved in lysosomal acidification. The protein is a chloride channel and is localized to lysosomal membranes, where it facilitates chloride ion transport and contributes to lysosomal acidification and ion homeostasis. The protein functions as a chloride channel and is involved in chloride ion transport and lysosomal acidification. [-]

             autosomal recessive osteopetrosis 4

          OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD