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What is the link between ATP2C2 and cardiovascular disease?
ATP2C2 maintains calcium homeostasis in cardiomyocytes, and mutation of ATP2C2 may lead to abnormal myocardial systolic function, which in turn is associated with cardiovascular diseases such as myocardial infarction.
In what physiological processes does ATP2C2 function?
ATP2C2 plays a role in physiological processes such as intracellular regulation of calcium ion concentration, cytoskeletal assembly, neurotransmitter release, muscle contraction, and cell proliferation.
How do mutations in ATP2C2 cause neurological diseases?
Mutation of ATP2C2 may lead to the dysfunction of ATP2C2, and then affect the intracellular calcium balance, neurotransmitter release and other key processes in the nervous system, leading to the occurrence of nervous system diseases.
What diseases may be caused by ATP2C22 mutations?
Mutations in ATP2C2 may be associated with neurological diseases such as Alzheimer's disease, cardiovascular diseases such as myocardial infarction, metabolic disorders, and cancer.
Does ATP2C2 have a potential therapeutic role?
Given the important role of ATP2C2 in multiple physiological processes, studying its disease-related mutations and calcium regulation mechanism may provide new clues and directions for the treatment of related diseases.
What is the specific role of ATP2C2 in neurotransmitter release?
This is responsible for the transport and regulation of intracellular calcium ions during neurotransmitter release, ensuring that neurotransmitters can be released correctly into the synaptic cleft.