The clcn1 gene encodes a chloride channel protein, specifically a voltage-gated chloride channel. In xenopus, this protein localizes to the plasma membrane and intracellular membranes. It functions in ...[+]

The clcn1 gene encodes a chloride channel protein, specifically a voltage-gated chloride channel. In xenopus, this protein localizes to the plasma membrane and intracellular membranes. It functions in chloride ion transport across membranes, regulating electrical excitability in skeletal muscle and other tissues. Expression is found in the skeletal muscle, heart, kidney, nervous system, and eye. [-]

             Thomsen disease

          MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

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