Human pathology

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GRIK2

ionotropic glutamate receptor 6 gene (GRIK2, or GLUR6)

GLU(K6) is indispensable for higher brain functions in humans.

Pathology

- germline mutations of GRIK2 in autosomal recessive mental retardation (MRT6) (MIM.611092).

NB: Glutamate receptors mediate most excitatory neurotransmission in the brain.

See also

- GRIKs

References

- Motazacker, M. M.; Rost, B. R.; Hucho, T.; Garshasbi, M.; Kahrizi, K.; Ullmann, B.; Abedini, S. S.; Nieh, S. E.; Amini, S. H.; Goswami, C.; Tzschach, A.; Jensen, L. R.; Schmitz, D.; Ropers, H. H.; Najmabadi, H.; Kuss, A. W. : A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 81: 792-798, 2007. PubMed ID : 17847003