CLCN3
Description
The CLCN3 gene provides instructions for making a protein called chloride channel 3 (ClC-3). This protein forms channels in the membranes of muscle cells, allowing chloride ions to pass through. These channels play a vital role in regulating muscle excitability and contraction. They contribute to maintaining the proper balance of electrolytes within muscle cells, ensuring smooth and coordinated muscle function. Mutations in the CLCN3 gene can lead to a variety of muscle disorders, affecting both skeletal and smooth muscle systems.
Associated Diseases
- Myotonia Congenita (Thomsen Disease)
- Myotonia Congenita (Becker Disease)
- Generalized Myotonia
- Paramyotonia Congenita
- Hypokalemic Periodic Paralysis (HypoPP)
- Nocturnal Paroxysmal Dystonia
Did you know?
Mutations in the CLCN3 gene can cause both dominant and recessive inheritance patterns, leading to a wide spectrum of muscle disorders with varying severity.
