| Primary Identifier | MGI:1100508 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 16523 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; sulfonylurea receptor binding activity; and voltage-gated monoatomic ion channel activity. Acts upstream of or within several processes, including heart development; intracellular signal transduction; and neuroinflammatory response. Located in myofibril. Part of protein-containing complex. Is active in presynapse. Is expressed in genitourinary system and heart. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Orthologous to human KCNJ8 (potassium inwardly rectifying channel subfamily J member 8). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
