KCNJ11 Membrane Protein Introduction

Introduction of KCNJ11

KCNJ11 is encoded by KCNJ11 gene. KCNJ11 belongs to the Potassium Voltage-Gated Channel Subfamily J which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It can produce four ATP-sensitive potassium (K-ATP) channel subunits, which helps secrete the hormone insulin and regulate the amount of glucose in the bloodstream. Meanwhile, recent studies indicate that KCNJ11 variants are associated with multiple diseases, include congenital hyperinsulinism.

Function of KCNJ11 Membrane Protein

KCNJ11, also named ATP-sensitive inward rectifier potassium channel 11, is expressed in most mammalian brain and thyroid cells, which is responsible for regulating potassium to flow into a cell. It is documented that KCNJ11 variants are significantly related to various diabetes, such as permanent neonatal diabetes mellitus, non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and gestational diabetes. Reports have shown that KCNJ11 (E23K, rs5219) and SDF-1β (G801A, rs1801157) genetic polymorphisms are significantly associated with type 2 diabetes.

Fig.1 Structure and function of ventricular sarcolemmal KATP channel complexes. (Terzic, 2011)

Application of KCNJ11 Membrane Protein in Literature

1. Hou P., et al. Effects of exercise intervention on the relationship between KCNJ11 gene polymorphism and glucose and lipid metabolism in pre-diabetes mellitus. Wei Sheng Yan Jiu. 2018, 265(6): 47(2), 237-241. PubMed ID: 29903275
   
   

   This article focuses on finding the relationship between KCNJ11 SNP and glycolipid metabolism in pre-diabetic population. The results indicate that the CC genotype of the KCNJ11 gene rs5219 site and the GG genotype of rs2285676 site play an important role in the early stage of diabetes intervention.

2. Rizvi S., et al. Genetic polymorphisms in KCNJ11 (E23K, rs5219) and SDF-1β (G801A, rs1801157) genes are associated with the risk of type 2 diabetes mellitus. Br J Biomed Sci. 2018, 75(3): 139-144. PubMed ID: 29893194
   
   

   Authors examine the genetic variants in a patient with type 2 diabetes mellitus. The data reveal KCNJ11 (E23K, rs5219) and SDF-1β (G801A, rs1801157) genetic polymorphisms are significantly associated with type 2 diabetes.

3. Bowman P., et al. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol. 2018, pii: S2213-8587(18)30106-2. PubMed ID: 29880308
   
   

   Authors in this group conduct a 10-year follow-up study in patients who suffer from KCNJ11 permanent neonatal diabetes. The results indicate that high-dose sulfonylurea therapy is useful for KCNJ11 permanent neonatal diabetes.

4. Phani N.M., et al. Genetic Variants Identified from GWAS for Predisposition to Type 2 Diabetes Predict Sulfonylurea Drug Response. Curr Mol Med. 2017, 17(8): 580-586. PubMed ID: 29473503
   
   

   This article conducts a genome-wide association study to identify the relationship between Several genes and type 2 diabetes. The data suggest KCNJ11 (rs5219) could be helpful for altering the response to glibenclamide.

5. Strutynskyi R.B., et al. Changes of the echocardiographic parameters in chronic heart failure patients with Ile337val, Glu23lys, and Ser1369ala polymorphisms of genes encoding the ATP-sensitive potassium channels subunits in the Ukrainian population. Ann Hum Genet. 2018, 82(5):272-279. PubMed ID: 30003549
   
   

   Authors analyze the SNPs in genes that encode KATP channels in relation to echocardiographic parameters in chronic heart failure (CHF) patients. These results demonstrate that the frequencies of the genotype have significant difference among CHF patients.

KCNJ11 Preparation Options

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Reference

1. Terzic A, et al. (2011). Advances in cardiac ATP-sensitive K⁺ channelopathies from molecules to populations. Circ Arrhythm Electrophysiol. 4(4): 577-85.

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