| Primary Identifier | MGI:1194488 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 22348 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gamma-aminobutyric acid:proton antiporter activity and glycine:proton antiporter activity. Involved in gamma-aminobutyric acid import and glycine transport. Located in several cellular components, including cone cell pedicle; dendrite terminus; and inhibitory synapse. Is expressed in several structures, including cardiovascular system; central nervous system; eye; metanephros; and skeleton. Used to study temporal lobe epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy and generalized epilepsy with febrile seizures plus. Orthologous to human SLC32A1 (solute carrier family 32 member 1). PHENOTYPE: Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. [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
