KCNMA1

Description

The KCNMA1 gene, provides instructions for creating the alpha subunit of the large-conductance calcium-activated potassium (BK) channel. These channels are crucial for regulating the flow of potassium ions across cell membranes, influencing a wide range of physiological processes. The BK channel, composed of four alpha subunits and four beta subunits, plays a vital role in maintaining membrane potential, regulating neuronal excitability, controlling smooth muscle contraction, and impacting hormone secretion. Its complex structure and diverse functions make it a critical component of various cellular processes.

Associated Diseases

• Cardiovascular diseases: Heart arrhythmias, hypertension
• Neurological disorders: Epilepsy, autism spectrum disorders, intellectual disability
• Respiratory conditions: Asthma, chronic obstructive pulmonary disease
• Endocrine disorders: Diabetes mellitus
• Cancer: Prostate cancer, breast cancer

Did you know?

Mutations in the KCNMA1 gene can lead to a rare condition called episodic ataxia type 1, characterized by sudden episodes of uncoordinated movements.