ABCC9 Antibody

1. Significant gene-based association between the ABCC9 gene and hippocampal sclerosis-aging appeared to be driven by a region in which a significant haplotype-based association. PMID: 28131462
2. ABCC9 gene has been associated with Dilated Cardiomyopathy. 3 pathogenic variants have been associated with DCM: 1 missense -CM1410876-, 1 nonsense -CM040975-, and 1 small indel -CX041212. PMID: 27736720
3. Analysis of three Cantu syndrome-associated gain of function mutations indicates that all lead to overactive K(ATP) channels, but at least two mechanisms underlie the observed gain of function: decreased ATP inhibition and enhanced MgADP activation. PMID: 26621776
4. The patient reported here gives further evidence that these syndromes are an expression of the ABCC9-related disorders, ranging from hypertrichosis and acromegaloid facies to the severe end of Cantu syndrome. PMID: 26871653
5. ABCC9 polymorphism associated with Brain disorders: sleep problems. depression and HS-Aging. PMID: 26226329
6. single amino acid difference can account for the markedly different diazoxide sensitivities between channels containing either the SUR1 or SUR2A subunit isoforms. PMID: 26181369
7. We describe novel ABCC9 variants in human brain, corresponding to altered 3'UTR length, which could lead to targeting by miR-30c PMID: 26115089
8. Results show that a polymorphism in ABCC9 is associated with aging pathology, and exposure to sulfonylurea drugs is associated with increased risk for aging pathology among individuals who died age 85 and older PMID: 24770881
9. This study confirmed that specific ABCC9 single-nucleotide polymorphisms is associated with HS-Aging pathology in the Alzheimer disease. PMID: 25470345
10. ABCC9 is a susceptibility gene for early repolarization syndrome and Brugada syndrome. PMID: 24439875
11. A mutation (V734I) in ABCC9 increases susceptibility to coronary spasm and acute myocardial infarction. PMID: 23739550
12. two different de novo missense mutations in the two patients with coarse facial features and hypertrichosis PMID: 23307537
13. This study showed that variants in the SUR2 gene (ABCC9) associate with epidemiological variation in human sleep duration, which is also influenced by inter-individual differences in seasonal adaptation and chronotype. PMID: 22105623
14. Electrophysiological experiments show that mutations in ABCC9, associated with Cantu syndrome, reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. PMID: 22610116
15. Cantu syndrome is caused by mutations in ABCC9 PMID: 22608503
16. mammalian oocytes express K(ATP) channels. Real-time PCR revealed that mRNA for Kir6.1, Kir6.2, SUR2A and SUR2B, were present in human oocytes of different stages. PMID: 20847183
17. sequence variants in ABCC9 is unlikely to contribute to variation in postural change in systolic blood pressure PMID: 19952277
18. These findings suggest that abnormal localization of the SUR2A K(+) channel protein leads to reduced K(ATP) channel activity in familial hypokalemic periodic paralysis. PMID: 19962959
19. Assembly limits the pharmacological complexity of ATP-sensitive potassium channels PMID: 11825905
20. down-regulation of this channel may facilitate myometrial function during late pregnancy PMID: 12356945
21. In corporal smooth muscle is composed of Kir6.1-Kir6.2 construct expressed with SUR2B.K(ATP) channel in corporal smooth muscle cells is composed of heteromultimers of Kir6.1 and Kir6.2 with the ratio of 3 : 1 or 4 : 0 and SUR2B. PMID: 12934053
22. role of mutation in human dilated cardiomyopathy and effect on KATP channel gating PMID: 15034580
23. Syn-1A binds both NBFs of SUR1 and SUR2A but appears to exhibit distinct interactions with NBF2 of these SUR proteins in modulating the KATP channels in islet beta cells and cardiac myocytes PMID: 15339904
24. newly discovered 734Ile allele in ABCC9 might influence susceptibility to precocious myocardial infarct in our population PMID: 16563363
25. Syntaxin-1A actions on sulfonylurea receptor 2A blocks acidic pH-induced cardiac K(ATP) channel activation PMID: 16672225
26. Results describe a new function of the Kir6.1-SUR2A complex, namely the regulation of paracellular permeability through tight junctions. PMID: 16820413
27. review the structure and function of ABC proteins and discuss SUR, its regulation of the K(ATP) channel, and its role in cardiovascular disease. PMID: 18239147
28. caveolin-dependent internalization is involved in PKC-epsilon-mediated inhibition of vascular K(ATP) channels (Kir6.1 and SUR2B) by phorbol 12-myristate 13-acetate or angiotensin II PMID: 18663158
29. Kir6.1/SUR2B is the major functional K(ATP) channel complex in the pig MMA and MCA, and mRNA expression studies suggest that the human MMA shares this K(ATP) channel subunit profile PMID: 18996111
30. caveolin-3 negatively regulates Kir6.2/SUR2A channel function. PMID: 19481058

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HGNC: 60

OMIM: 239850

KEGG: hsa:10060

STRING: 9606.ENSP00000261200

UniGene: Hs.732701