9kgl

Structural highlights

Disease

KCJ11_HUMAN MODY;Autosomal dominant hyperinsulinism due to Kir6.2 deficiency;Intermediate DEND syndrome;Transient neonatal diabetes mellitus;Permanent neonatal diabetes mellitus;DEND syndrome;Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency;Autosomal recessive hyperinsulinism due to Kir6.2 deficiency. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2. The disease is caused by mutations affecting the gene represented in this entry.

Function

KCJ11_HUMAN This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.^{[1] [2] [3]}

References

1. ↑ Tammaro P, Ashcroft FM. A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit. J Physiol. 2007 Nov 1;584(Pt 3):743-53. doi: 10.1113/jphysiol.2007.143149. Epub, 2007 Sep 13. PMID:17855752 doi:http://dx.doi.org/10.1113/jphysiol.2007.143149
2. ↑ Cooper PE, McClenaghan C, Chen X, Stary-Weinzinger A, Nichols CG. Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. J Biol Chem. 2017 Oct 20;292(42):17387-17398. doi: 10.1074/jbc.M117.804971. Epub , 2017 Aug 23. PMID:28842488 doi:http://dx.doi.org/10.1074/jbc.M117.804971
3. ↑ Babenko AP, Gonzalez G, Aguilar-Bryan L, Bryan J. Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells. Circ Res. 1998 Nov 30;83(11):1132-43. PMID:9831708