ABCC9

ABCC9 is a gene in humans that encodes a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The protein encoded by this gene is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, vascular and non-vascular smooth muscle. These channels are known to regulate sleep and to be involved in neurological and cardiovascular diseases.

Function

The ABCC9 gene provides instructions for making a protein that is part of a potassium channel. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

Clinical significance

Mutations in the ABCC9 gene have been associated with dilated cardiomyopathy 10 (CMD1O) and familial atrial fibrillation.

See also

• ATP-binding cassette transporter
• Dilated cardiomyopathy
• Familial atrial fibrillation

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Atrial Fibrillation

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