Recombinant Human ATP-binding cassette sub-family C member 9 (ABCC9), partial

Code CSB-YP001067HU
MSDS
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Source Yeast
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Code CSB-EP001067HU
MSDS
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Source E.coli
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Code CSB-EP001067HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP001067HU
MSDS
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Source Baculovirus
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Code CSB-MP001067HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
ABCC9
Uniprot No.
Alternative Names
ABC37; abcC9; ABCC9_HUMAN; AI414027; AI449286; ATFB12; ATP-binding cassette sub-family C member 9; ATP-binding cassette transporter sub-family C member 9; ATP-binding cassette; sub-family C (CFTR/MRP); member 9; CANTU; CMD1O; FLJ36852; Sulfonylurea receptor 2; Sulfonylurea-binding protein 2; SUR2; SUR2A; SUR2B
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
Gene References into Functions
  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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Involvement in disease
Cardiomyopathy, dilated 1O (CMD1O); Atrial fibrillation, familial, 12 (ATFB12); Hypertrichotic osteochondrodysplasia (HTOCD)
Subcellular Location
Membrane; Multi-pass membrane protein.
Protein Families
ABC transporter superfamily, ABCC family, Conjugate transporter (TC 3.A.1.208) subfamily
Database Links

HGNC: 60

OMIM: 239850

KEGG: hsa:10060

STRING: 9606.ENSP00000261200

UniGene: Hs.732701

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