| Primary Identifier | MGI:1352630 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 20928 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium channel activity. Acts upstream of or within with a positive effect on cardiac muscle cell contraction. Acts upstream of or within several processes, including heart development; oxygen metabolic process; and regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Located in sarcomere. Part of protein-containing complex. Is active in mitochondrion and sarcolemma. Is expressed in several structures, including alimentary system; heart; musculoskeletal system; nervous system; and nose. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; hypertrichotic osteochondrodysplasia Cantu type; and intellectual disability and myopathy syndrome. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9). PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [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
