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ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Identifiers
Symbol ABCC9
Alt. symbols SUR2, CMD1O
Entrez 10060
HUGO 60
OMIM 601439
RefSeq NM_005691
UniProt O60706
Other data
Locus Chr. 12 p12.1

ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is a ATP-binding cassette transporter which in humans is encoded by the ABCC9 gene.[1][2]

Contents

Function

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein 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, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in several products, two of which result from differential usage of two terminal exons and one of which results from exon deletion.[3]

Clinical significance

It has been associated with dilated cardiomyopathy.[2]

See also

References

  1. ^ Aguilar-Bryan L, Clement JP, Gonzalez G, Kunjilwar K, Babenko A, Bryan J (January 1998). "Toward understanding the assembly and structure of KATP channels". Physiol. Rev. 78 (1): 227–45. PMID 9457174. http://physrev.physiology.org/cgi/pmidlookup?view=long&pmid=9457174.  
  2. ^ a b 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 (April 2004). "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating". Nat. Genet. 36 (4): 382–7. doi:10.1038/ng1329. PMID 15034580.  
  3. ^ "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10060.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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