Target intelligence / Profile preview

ATP-binding cassette sub-family C member 9

Molecular classification
ATP-binding cassette transporter superfamily, MRP subfamily, Ion channel regulatory subunit
01

Overview

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).

Other names
ABCC9Sulfonylurea receptor 2 (SUR2)ABC37ATFB12CANTUCMD1OSUR2IDMYS
02

Mechanism of action

Regulates the opening and closing of KATP channels based on intracellular ATP levels, thereby affecting potassium ion flux and cellular excitability.

03

Biological functions

Potassium ion transport regulationMetabolic sensingRegulation of KATP channel activityModulation of calcium ion concentration
04

Disease associations

Cantú syndromeFamilial dilated cardiomyopathyFamilial atrial fibrillationBrugada syndromeIntellectual disability/myopathy syndrome (AIMS)
05

Safety considerations

Gain-of-function mutations can lead to abnormal channel opening and altered tissue excitability.Loss-of-function mutations can impair neurodevelopment and muscle function.
06

Interacting drugs

Sulfonylureas (indirectly via KATP channels)

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