KCNQ2

KCNQ2 is a gene that provides instructions for making a protein that forms a channel across the membrane of cells. This channel transports positively charged atoms (ions) of potassium out of cells and is critical for maintaining the normal function of neurons, which are the cells that transmit information in the brain.

Function

The KCNQ2 gene belongs to a family of genes that provide instructions for making proteins that form potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNQ2 gene provides instructions for making a protein that forms a channel in the cell membrane. This channel allows potassium ions to flow out of the cell, which is critical for maintaining the normal function of neurons.

Clinical significance

Mutations in the KCNQ2 gene can cause a variety of neurological disorders, including benign familial neonatal seizures, early infantile epileptic encephalopathy, and KCNQ2-related disorders. These conditions are characterized by recurrent seizures (epilepsy) and intellectual disability.

See also

• Potassium channel
• Neuron
• Epilepsy
• Benign familial neonatal seizures
• Early infantile epileptic encephalopathy

External links

• KCNQ2 at Genetics Home Reference
• KCNQ2 at National Center for Biotechnology Information

KCNQ2 Resources
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