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 8.0.0) Enables glutamate decarboxylase activity. Involved in gamma-aminobutyric acid 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; central nervous system; genitourinary system; limb bud; 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] |