KCNMB4

KCNMB4 is a gene that encodes the protein BK channel beta 4 subunit in humans. This protein is a member of the calcium-activated potassium channel family, which plays a crucial role in the human nervous system and cardiovascular system.

Function

The KCNMB4 gene is responsible for the production of the BK channel beta 4 subunit. This subunit is a part of the large conductance, voltage and calcium-sensitive potassium channels, also known as MaxiK channels. These channels are fundamental for the regulation of neurotransmitter release, neuron excitability, smooth muscle contraction, and epithelial electrolyte transport.

Structure

The BK channel beta 4 subunit is a transmembrane protein that interacts with the alpha subunit of the MaxiK channel. This interaction enhances the function of the channel, increasing its sensitivity to both voltage and calcium changes.

Clinical Significance

Mutations in the KCNMB4 gene have been associated with various medical conditions. For example, a mutation in this gene can lead to generalized epilepsy and paroxysmal dyskinesia, a rare neurological disorder.

Research

Research on the KCNMB4 gene and its protein product is ongoing, with scientists aiming to understand its role in health and disease better. This research could potentially lead to new treatments for conditions associated with mutations in this gene.