CLCN1
Description
The CLCN1 gene provides instructions for making a protein called the chloride channel 1 (ClC-1). This protein forms a channel that allows chloride ions to pass through cell membranes. Chloride ions are essential for maintaining the proper balance of fluids and electrolytes in the body, as well as for nerve and muscle function. The CLCN1 gene is located on chromosome 7 and is expressed in a variety of tissues, including skeletal muscle, smooth muscle, and the kidneys. Mutations in the CLCN1 gene can lead to a number of disorders, including myotonia congenita, a muscle disorder characterized by muscle stiffness and delayed relaxation.
Associated Diseases
Did you know?
Myotonia congenita, caused by mutations in the CLCN1 gene, was first described in the 19th century by German physician Julius Thomsen, who actually suffered from the condition himself.
