| Primary Identifier | MGI:99923 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 16531 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity; large conductance calcium-activated potassium channel activity; and voltage-gated potassium channel activity. Acts upstream of or within several processes, including adult walking behavior; cell maturation; and eye blink reflex. Located in several cellular components, including apical plasma membrane; external side of plasma membrane; and postsynaptic membrane. Part of voltage-gated potassium channel complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in Alzheimer's disease; idiopathic generalized epilepsy; and paroxysmal nonkinesigenic dyskinesia 3. Orthologous to human KCNMA1 (potassium calcium-activated channel subfamily M alpha 1). PHENOTYPE: Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment. [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
