ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9gene.[5][6]
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.[7]
A variant has also been associated with circa 25 minutes more sleep per day in humans; lack thereof has been associated with three hours less sleep per day in fruit flies.[9][10]
A study involving 12,901 individuals from Iceland demonstrated a link between variants of the ABCC9 gene and higher vocal pitch in both men and women. This discovery establishes ABCC9 as the first identified genetic locus associated with vocal pitch.[11]
^Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, et al. (May 2012). "Dominant missense mutations in ABCC9 cause Cantú syndrome". Nature Genetics. 44 (7): 793–796. doi:10.1038/ng.2324. PMID22610116. S2CID205345718.
Jöns T, Wittschieber D, Beyer A, Meier C, Brune A, Thomzig A, et al. (August 2006). "K+-ATP-channel-related protein complexes: potential transducers in the regulation of epithelial tight junction permeability". Journal of Cell Science. 119 (Pt 15): 3087–3097. doi:10.1242/jcs.03041. PMID16820413. S2CID21379360.
Minoretti P, Falcone C, Aldeghi A, Olivieri V, Mori F, Emanuele E, et al. (August 2006). "A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction". Clinica Chimica Acta; International Journal of Clinical Chemistry. 370 (1–2): 124–128. doi:10.1016/j.cca.2006.02.007. PMID16563363.
Ellis JA, Lamantia A, Chavez R, Scurrah KJ, Nichols CG, Harrap SB (February 2010). "Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9". Physiological Genomics. 40 (3): 184–188. doi:10.1152/physiolgenomics.00173.2009. PMID19952277. S2CID6561063.
Sato N, Nakayama T, Asai S, Soma M (January 2006). "A haplotype in the human Sur2 gene is associated with essential hypertension". Journal of Human Hypertension. 20 (1): 87–90. doi:10.1038/sj.jhh.1001943. PMID16267564. S2CID20035057.
Ploug KB, Sørensen MA, Strøbech L, Klaerke DA, Hay-Schmidt A, Sheykhzade M, et al. (December 2008). "K ATP channels in pig and human intracranial arteries". European Journal of Pharmacology. 601 (1–3): 43–49. doi:10.1016/j.ejphar.2008.10.041. PMID18996111.
Garg V, Sun W, Hu K (July 2009). "Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels". Biochemical and Biophysical Research Communications. 385 (3): 472–477. doi:10.1016/j.bbrc.2009.05.100. PMID19481058.
