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The protein encoded by ABCC9 is a member of the superfamily of ATP-binding cassette (ABC) transporters. Additionally we are shipping ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9 Antibodies (90) and ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9 Proteins (8) and many more products for this protein.
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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.
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.
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.
ABCC9 polymorphism associated with Brain disorders: sleep problems. depression and HS-Aging.
single amino acid difference can account for the markedly different diazoxide sensitivities between channels containing either the SUR1 (show ABCC8 ELISA Kits) or SUR2A subunit isoforms.
We describe novel ABCC9 variants in human brain, corresponding to altered 3'UTR (show UTS2R ELISA Kits) length, which could lead to targeting by miR (show MLXIP ELISA Kits)-30c
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
This study confirmed that specific ABCC9 single-nucleotide polymorphisms is associated with HS-Aging pathology in the Alzheimer disease.
ABCC9 is a susceptibility gene for early repolarization syndrome and Brugada syndrome.
A mutation (V734I) in ABCC9 increases susceptibility to coronary spasm and acute myocardial infarction.
Results describe a new function of the Kir6.1 (show KCNJ8 ELISA Kits)-SUR2A complex, namely the regulation of paracellular permeability through tight junctions.
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
K(ATP) channels seem to play an essential role in murine myometrial motility via activation of SUR2B and Kir6.2 (show KCNJ11 ELISA Kits)
Data show that PI3K/Akt (show AKT1 ELISA Kits) signalling pathway and lactate dehydrogenase (LDH) play a crucial role in increase of cardiac ATP-binding cassette transporter sub-family C member 9 (SUR2A) induced by in vivo exposure to 18% oxygen.
Sulfhydration of SUR2B subunit modifies tyrosine nitration of Kir6.1 (show KCNJ8 ELISA Kits) subunit within the KATP channel complex.
ATP-sensitive potassium currents from channels formed by Kir6 and a modified cardiac mitochondrial SUR2 variant
In the absence of Abcc9, the newborn heart fails to transition normally from fetal to mature myocardial metabolism.
Native K(ATP) channels in mouse vas (show AVP ELISA Kits) deferens myocytes are a heterocomplex of K(IR)6.1 channels and SUR2B subunits.
The results confirm that Kir6.2 (show KCNJ11 ELISA Kits) contributes to APD shortening in both atria and ventricle during metabolic stress, and that SUR1 (show ABCC8 ELISA Kits) is required for atrial APD shortening while SUR2A is required for ventricular APD shortening.
the role of CpG methylation in regulating SUR1 (show ABCC8 ELISA Kits) and SUR2 expression
Report unique properties of the ATP-sensitive potassium channel (show KCNAB2 ELISA Kits) in the mouse ventricular cardiac conduction system.
Syntaxin-1A (show STX1A ELISA Kits) inhibits KATP channels by interacting with specific conserved motifs within sulfonylurea receptor (show ABCC8 ELISA Kits) 2A.
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 extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants.
ATP-binding cassette, sub-family C, member 9
, ATP-binding cassette, sub-family C (CFTR/MRP), member 9
, ATP-binding cassette sub-family C member 9
, ATP-binding cassette sub-family C member 9-like
, sulfonylurea receptor subunit 2
, ATP-binding cassette transporter sub-family C member 9
, sulfonylurea receptor 2
, sulfonylurea-binding protein 2
, Sulfonylurea receptor 2
, cardiac ventricle sulfonyl urea receptor
, sulphonylurea receptor 2B