Immunogen sequence: YLHRFGAKCI AVGESDGSIW NPDGIDPKEL EDFKLQHGSI LGFPKAKPYE GSILEVDCDI LIPAATEKQL TKSNAPRVKA KIIAEGANGP TTPEADKIFL ERNILVIPDL YLNAGGVTVS YFEWLKNLNH VSYGRLTFKY ERDSNYHLLL SVQESLERKF GKHGGTIPIV PTAEFQDSIS GASEKDIVHS ALAYTMERSA RQIMHTAMKY NLGLDLRTAA YVNAIEKVFK VYSEAGVTFT; Positive Samples: A-549, MCF7, THP-1, A-431, Mouse brain, Mouse eye, Rat testis; Cellular Location: Mitochondrion matrix
The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named and apos;lurcher and apos;, in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans.
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Protein Aliases: creeper; GluD2; gluR delta-2 subunit; glutamate receptor delta-2 subunit; Glutamate receptor ionotropic, delta-2; glutamate receptor, ionotropic, delta 2; hotfoot; lurcher; minisatellite 10ac detected by probe MMS10
B230104L07Rik; cpr; GluD2; GLURD2; GluRdelta2; GRID2; ho; Lc; Lc