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Target intelligence / Profile preview
Chloride channel protein type 1 subunit alpha (ClC-1)
- Target
- ClC-1
- Molecular classification
- Ion channel, Voltage-gated chloride channel, CLC family
01
Overview
Chloride channel protein type 1 subunit alpha, commonly referred to as CLCN1 or ClC-1, is a voltage-gated chloride channel predominantly expressed in skeletal muscle. It plays a crucial role in maintaining the electrical stability and excitability of muscle fibers by generating most of the plasma membrane chloride conductance. Mutations in the CLCN1 gene are associated with myotonia congenita, a genetic disorder characterized by delayed relaxation of muscles after voluntary contractions due to impaired chloride conductance.
- Other names
- CLCN1Chloride channel 1
02
Mechanism of action
Not applicable
03
Biological functions
Regulation of skeletal muscle excitabilityMaintenance of resting membrane potentialChloride conductance
04
Disease associations
Myotonia congenita
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