| Primary Identifier | MGI:3039629 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 216227 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables L-glutamate uniporter activity. Involved in positive regulation of glutamate uptake involved in transmission of nerve impulse and regulation of acetylcholine uptake. Acts upstream of or within L-glutamate transmembrane transport. Located in synaptic vesicle. Is active in glutamatergic synapse and synaptic vesicle membrane. Is expressed in brain; cochlear ganglion; and sensory organ. Used to study autosomal dominant nonsyndromic deafness 25. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 25. Orthologous to human SLC17A8 (solute carrier family 17 member 8). PHENOTYPE: Mice homozygous for a null allele exhibit sensorineural hearing loss, cochlear ganglion degeneration, decreased synaptic glutamate release, and nonconvulsive seizures. [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
