Primary Identifier | MGI:2684139 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 192775 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in several processes, including potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell membrane repolarization. Predicted to be active in plasma membrane. Is expressed in several structures, including gut; male reproductive gland or organ; nervous system; retina; and skin. Used to study glucose metabolism disease. Orthologous to human KCNH6 (potassium voltage-gated channel subfamily H member 6). PHENOTYPE: Nullizygous mice show a phenotype changing from hyperinsulinemia to hypoinsulinemia and diabetes. Islets from young mice show high intracellular calcium levels and insulin hypersecretion, whereas adult islets show increased ER stress and apoptosis, loss of beta cell mass and insulin hyposecretion. [provided by MGI curators] |