Disease-gene associations mined from literature

Literature associating KCNJ11 and hypertrichotic osteochondrodysplasia Cantu type

KCNJ11 [ENSP00000345708]

Potassium inwardly-rectifying channel, subfamily J, member 11; 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.

Synonyms:  KCNJ11,  KCNJ11p,  hKCNJ11,  B2RC52,  E9PPF1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM