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ABCC9 encodes the sulfonylurea receptor 2 (SUR2), a regulatory subunit of ATP-sensitive potassium (KATP) channels. These channels regulate potassium ion transport across cell membranes in response to intracellular ATP levels, crucial for cellular excitability and metabolic sensing. Mutations in ABCC9 are associated with various diseases, including Cantú syndrome, familial dilated cardiomyopathy, and intellectual disability/myopathy syndrome (AIMS).
Regulates the opening and closing of KATP channels based on intracellular ATP levels, thereby affecting potassium ion flux and cellular excitability.
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