KCNMB1, encoding the β1 subunit of the large-conductance calcium-activated potassium (BK) channel, is crucial for regulating BK channel activity. The BK channels are involved in various physiological processes such as smooth muscle contraction, neurotransmitter release, and regulation of vascular tone [2,3,4,5,6,7,8,9]. Genetic models can help understand its function and its role in related biological pathways and diseases.

In a meta-analysis, the dominant model of the KCNMB1 E65K polymorphism was significantly associated with essential hypertension risk in Asians, suggesting it might be a susceptibility factor [1]. In Kcnmb1-/-mice, they are hypertensive, volume expanded, and have reduced urinary K and Na clearances, with the majority of hypertension due to aldosteronism from renal potassium retention and hyperkalemia [7]. Fibroblasts from patients with idiopathic pulmonary fibrosis (IPF) show increased KCNMB1 expression, and knockdown of KCNMB1 attenuates their ability to contract collagen gels, indicating a role in myofibroblast differentiation [2].

In conclusion, KCNMB1 plays a vital role in regulating BK channel activity, which impacts various physiological functions. Studies using KO mouse models have revealed its significance in diseases like hypertension and pulmonary fibrosis. Understanding KCNMB1 through these models provides insights into disease mechanisms and potential therapeutic targets for these conditions.