ATP binding cassette subfamily C member 9
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A ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. This protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 ou KCNJ11 gene. The SUR2 subunits regulate the activity of the channel, determining whether it is open or closed.
Normal function
A ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. This protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 ou KCNJ11 gene. The SUR2 subunits regulate the activity of the channel, determining whether it is open or closed.
Channels made with the SUR2 protein are known as ATP-sensitive potassium (K-ATP) channels. The channels open and close in response to the amount of ATP, the cell's main energy source, inside the cell. The resulting transport of potassium ions is part of a complex network of signals that relay chemical messages into and out of cells.
Although K-ATP channels are present in cells and tissues throughout the body, the highest levels of SUR2-containing channels are found in skeletal and heart (cardiac) muscle. These channels indirectly help regulate the concentration of calcium ions in cells. This regulation is essential for normal heart function. The function of these channels in other tissues is unclear.
Conditions referring to this gene or chromosome
Other names
ABC37
ABCC9_HUMAN
ATFB12
ATP-binding cassette sub-family C member 9
ATP-binding cassette sub-family C member 9 isoform SUR2A
ATP-binding cassette sub-family C member 9 isoform SUR2B
ATP-binding cassette transporter sub-family C member 9
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
CANTU
CMD1O
sulfonylurea receptor 2
SUR2
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Leitura adicional e referências
- ATP binding cassette subfamily C member 9; MedlinePlus, National Library of Medicine.
- Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7. doi: 10.1038/ng1329. Epub 2004 Mar 21.
- Bryan J, Munoz A, Zhang X, Dufer M, Drews G, Krippeit-Drews P, Aguilar-Bryan L. ABCC8 and ABCC9: ABC transporters that regulate K+ channels. Pflugers Arch. 2007 Feb;453(5):703-18. doi: 10.1007/s00424-006-0116-z. Epub 2006 Aug 8.
- Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Dominant missense mutations in ABCC9 cause Cantu syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.
- Solbach TF, Konig J, Fromm MF, Zolk O. ATP-binding cassette transporters in the heart. Trends Cardiovasc Med. 2006 Jan;16(1):7-15. doi: 10.1016/j.tcm.2005.10.001.
- van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.
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