KCNMB1

KCNMB1 is a gene that encodes the beta subunit of the large conductance, voltage and calcium-activated (BK) potassium channel in humans. The BK channel is known for its function in smooth muscle contraction and neuronal excitability. The KCNMB1 gene is located on chromosome 5q34 in humans.

Function

The protein encoded by the KCNMB1 gene is a regulatory subunit of the BK channel. It increases the calcium sensitivity and the voltage sensitivity of the BK channel, enhancing its function. The BK channel plays a crucial role in various physiological processes, including smooth muscle contraction, neuronal excitability, and potassium homeostasis.

Clinical Significance

Mutations in the KCNMB1 gene have been associated with various medical conditions. For instance, a single nucleotide polymorphism (SNP) in the KCNMB1 gene has been linked to hypertension. Other studies have suggested a potential role of KCNMB1 in the pathogenesis of epilepsy and asthma.

Research

Research on the KCNMB1 gene and its encoded protein is ongoing, with studies focusing on its role in various diseases and potential as a therapeutic target. For example, drugs that can modulate the function of the BK channel may be useful in the treatment of conditions such as hypertension and asthma.

See Also

• BK channel
• Potassium channel
• Hypertension
• Epilepsy
• Asthma