KCNJ10 gene

potassium voltage-gated channel subfamily J member 10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

From UniProt:

May be responsible for potassium buffering action of glial cells in the brain. 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 and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules.

From NCBI Gene:

  • SeSAME syndrome
  • Enlarged vestibular aqueduct syndrome
  • Pendred's syndrome

From UniProt:

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES): A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. [MIM:612780]

Cytogenetic Location: 1q23.2, which is the long (q) arm of chromosome 1 at position 23.2

Molecular Location: base pairs 160,037,467 to 160,070,261 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q23.2, which is the long (q) arm of chromosome 1 at position 23.2
  • BIRK-10
  • KCNJ13-PEN
  • KIR1.2
  • KIR4.1
  • SESAME