Key result
KCNE2 mutations and aberrant expression are linked to cardiovascular, neurological, and metabolic disorders.
Why the study?
KCNE2 mutations or aberrant expression may play a critical role in cardiovascular, neurological, metabolic, and multisystem disorders, warranting an overview of its physiological and pathophysiological functions.
This review highlights the ubiquitous expression and partnering promiscuity of KCNE2, emphasizing its role in cardiac action potential repolarization and various multisystem disorders.
Answers are grounded in this paper and cite their sources.
May support KCNE2 testing in unexplained multisystem cases; extends associations but leaves causal mechanisms and therapies open.
gene and is a member of the KCNE protein family, also known as the MinK-related protein 1 (MiRP1). It is mostly present in the epicardium of the heart and gastric mucosa, and it is also found in the thyroid, pancreatic islets, liver and lung, among other locations, to a lesser extent. It is involved in numerous physiological processes because of its ubiquitous expression and partnering promiscuity, including the modulation of voltage-dependent potassium and calcium channels involved in cardiac action potential repolarization, and regulation of secretory processes in multiple epithelia, such as gastric acid secretion, thyroid hormone synthesis, generation and secretion of cerebrospinal fluid. Mutations in the KCNE2 gene or aberrant expression of the protein may play a critical role in cardiovascular, neurological, metabolic and multisystem disorders. This article provides an overview of the advancements made in understanding the physiological functions in organismal homeostasis and the pathophysiological consequences of KCNE2 in multisystem diseases.
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Ming et al. (2024) conducted a review in Cardiac Arrhythmia and Multisystem Disorders. Mutations in the KCNE2 gene or aberrant expression of the protein may play a critical role in cardiovascular, neurological, metabolic, and multisystem disorders.
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