| Primary Identifier | MGI:2135960 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 107723 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium:chloride symporter activity and protein kinase binding activity. Involved in cellular response to glucose stimulus; chloride ion homeostasis; and potassium ion homeostasis. Located in axon and basolateral plasma membrane. Is expressed in nervous system and sensory organ. Used to study agenesis of the corpus callosum with peripheral neuropathy and motor peripheral neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and agenesis of the corpus callosum with peripheral neuropathy. Orthologous to human SLC12A6 (solute carrier family 12 member 6). PHENOTYPE: Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed. [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
