Primary Identifier | MGI:96669 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 16504 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated potassium channel activity. Involved in regulation of synaptic vesicle endocytosis. Acts upstream of or within regulation of neurotransmitter secretion. Located in several cellular components, including neuromuscular junction; neuron projection membrane; and neuronal cell body membrane. Is active in calyx of Held. Is expressed in aorta; aortic valve; and brain. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 13. Orthologous to human KCNC3 (potassium voltage-gated channel subfamily C member 3). PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators] |