CLCN1
CLCN1
CLCN1 (pronounced as "C-L-C-N-1"), also known as Chloride Voltage-Gated Channel 1, is a gene that provides instructions for making a protein that is critical for normal muscle function.
Etymology
The term CLCN1 is an abbreviation derived from Chloride Voltage-Gated Channel 1. The name reflects the gene's function in producing a protein that forms a channel to regulate the flow of chloride ions into cells.
Function
The CLCN1 gene provides instructions for making a protein that forms a channel, which controls the flow of negatively charged chloride atoms, or ions, into cells. This channel is found in the membrane of muscle cells, particularly those in the skeletal muscles that control movement. The flow of chloride ions into these cells helps stabilize the cells' electrical charge, which is critical for normal muscle function.
Related Terms
- Gene: The basic physical and functional unit of heredity. Genes are made up of DNA.
- Protein: Large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs.
- Ion: An atom or molecule with a net electric charge due to the loss or gain of one or more electrons.
- Skeletal muscles: Muscles which are connected to the skeleton to form part of the mechanical system that moves the limbs and other parts of the body.
- Chloride ions: The negatively charged ion Cl-. It is formed when the element chlorine picks up one electron.
External links
- Medical encyclopedia article on CLCN1
- Wikipedia's article - CLCN1
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