Primary Identifier | MGI:107501 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 16514 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity; ATP-activated inward rectifier potassium channel activity; and ankyrin binding activity. Involved in negative regulation of insulin secretion and potassium ion import across plasma membrane. Acts upstream of or within several processes, including CAMKK-AMPK signaling cascade; determination of adult lifespan; and response to ischemia. Located in T-tubule. Part of inward rectifying potassium channel. Is active in cytoplasm and plasma membrane. Is expressed in several structures, including brain; cardiovascular system; gut; skeletal muscle tissue; and testis. Used to study permanent neonatal diabetes mellitus. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple). Orthologous to human KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. [provided by MGI curators] |