KCNN1

KCNN1 is a gene that encodes the protein Small conductance calcium-activated potassium channel protein 1 in humans. This protein is a part of the potassium channel family, specifically the SK, or small conductance class, which are calcium-activated. They are responsible for regulating the polarization of the cell membrane in the neurons.

Function

The KCNN1 gene provides instructions for making a protein that forms potassium channels. These channels, which transport positively charged potassium ions across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNN1 channel is found in the membranes of neurons, where it contributes to the resting membrane potential and the repolarization phase of the action potential. The channel is activated by an increase in the concentration of intracellular calcium ions and modulated by the PKA, PKC, and calcineurin.

Clinical significance

Mutations in the KCNN1 gene have been associated with various medical conditions. For instance, a gain-of-function mutation in this gene has been linked to Birk Barel syndrome, a rare genetic disorder characterized by intellectual disability, hypotonia, hyperactivity, and unique facial dysmorphisms.

See also

• Voltage-gated potassium channel
• Calcium-activated potassium channel
• Birk Barel syndrome