| Primary Identifier | MGI:95632 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14415 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables glutamate decarboxylase activity. Involved in GABA biosynthetic process. Acts upstream of or within locomotory exploration behavior and social behavior. Located in several cellular components, including axon terminus; inhibitory synapse; and presynaptic active zone. Is active in GABA-ergic synapse; perinuclear region of cytoplasm; and presynapse. Is expressed in several structures, including alimentary system; genitourinary system; limb bud; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; amphetamine abuse; developmental and epileptic encephalopathy 89; drug psychosis; and heroin dependence. Orthologous to human GAD1 (glutamate decarboxylase 1). PHENOTYPE: Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex. [provided by MGI curators] |