The CLCN1 gene provides instructions for making a type of protein called a chloride channel. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell’s ability to generate and transmit electrical signals.
The CLCN1 gene provides instructions for making a chloride channel called ClC-1. These channels are found only in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of certain ions into and out of muscle cells. ClC-1 channels, which span the cell membrane, control the flow of chloride ions into these cells. This influx stabilizes the cells’ electrical charge, which prevents muscles from contracting abnormally.
ClC-1 channels are made of two identical protein subunits, each produced from the CLCN1 gene. Although each subunit forms a separate opening (pore) that allows chloride ions to pass through, the two proteins work together to regulate the flow of chloride ions into skeletal muscle cells.
Other Names
chloride channel 1, skeletal muscle; Chloride channel protein 1; Chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; ClC-1; CLC1; CLCN1_HUMAN; MGC138361; MGC142055; skeletal muscle chloride channel 1
Related Genetics Topics
Identifiers
- NCBI Gene: 1180
- OMIM: 118425
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
