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Group enriched (cerebellum, testis, hypothalamus, caudate)
FANTOM5:
Group enriched (cerebellum, caudate)
Protein evidence
Evidence at protein level
Protein expression
Expression in neuropil of cerebellum and subset of cells in seminiferous ducts.
DATA RELIABILITY
Data reliability description
Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded. RNA data for cerebellum not available for correlation.
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 'lurcher', 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. [provided by RefSeq, Apr 2014]