Chloride channel protein type 1, skeletal muscle (CLCN1)

Chloride channel protein type 1 (CLCN1), also known as ClC-1, is a voltage-gated chloride channel exclusively expressed in skeletal muscle. It is a homodimeric protein forming two separate pores, each facilitating the rapid passage of chloride ions across the muscle cell membrane, which stabilizes membrane potential and prevents abnormal muscle contractions[1][2][3][4]. CLCN1 mutations are causative for myotonia congenita, a disorder characterized by delayed muscle relaxation after voluntary contraction (Thomsen and Becker disease forms). The channel's biophysical characteristics, gating mechanisms, and associated disease mutations make it a prime target for research into therapies for neuromuscular channelopathies[2][4][1][3]. As of 2024, no approved drugs selectively target ClC-1, but its pharmacological modulation remains an area of therapeutic and research interest.

Other names

CLCN1ClC-1CLC1Chloride channel protein 1Skeletal muscle chloride channelThomsen disease (when referring to the disease phenotype)Chloride channel, voltage-sensitive 1Chloride channel 1ClC-1 channel

Channel inhibition (block chloride flux); Channel activation/modulation (theoretical but not clinically available as of 2024); Modulation of voltage gating and channel open probability