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FLASH GENE
Symbol KCNJ11 contributors: mct/shn - updated : 24-08-2016
HGNC name potassium inwardly-rectifying channel, subfamily J, member 11
HGNC id 6257
ASSOCIATED DISORDERS
corresponding disease(s) HHF2 , NIDDM15 , PNDM3 , HHF1 , MODY13
Susceptibility to type 2 diabetes with weight gain and obesity
Variant & Polymorphism other E23K polymorphism enhancing susceptibility to type 2 diabetes, and to gestational diabetes mellitus
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mice expressing a dominant-negative form of the KATP channel subunit Kir6. 2 develop hypoglycemia with hyperinsulinemia in neonates and hyperglycemia with hypoinsulinemia and decreased beta cell population in adults
  • transgenic mice expressing beta cell K(ATP) channels with reduced ATP sensitivity develop severe hyperglycemia, hypoinsulinemia, and ketoacidosis and die within 5 days
  • mice lacking the Kir6.2 subunit of K(ATP) channels are susceptible to generalized seizures after brief hypoxia
  • mouse expressing a Kir6.2 mutation (V59M) specifically in pancreatic beta cells develop severe diabetes soon after birth and display a reduced percentage of beta cells with abnormal morphology and lower insulin content
  • mice carrying a human Kir6.2 mutation (Val59-->Met59) targeted to either muscle or nerve display motor impairments originate in the central nervous system rather than in muscle or peripheral nerves