Primary Identifier | MGI:101931 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20511 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine transmembrane transporter activity; high-affinity L-glutamate transmembrane transporter activity; and monoatomic anion transmembrane transporter activity. Involved in several processes, including L-glutamate import across plasma membrane; cellular response to cocaine; and glutathione biosynthetic process. Acts upstream of or within several processes, including L-glutamate transmembrane transport; monoatomic anion transmembrane transport; and positive regulation of D-glucose import. Located in several cellular components, including astrocyte projection; axolemma; and membrane raft. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and spinal cord. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 41. Orthologous to human SLC1A2 (solute carrier family 1 member 2). PHENOTYPE: Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration. [provided by MGI curators] |