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Article

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

Journal of child neurology - 1 Jul 2013

Utine G Eda, Haliloğlu Göknur, Salanci Bilge, Çetinkaya Arda, Kiper P Özlem, Alanay Yasemin, Aktas Dilek, Boduroğlu Koray, Alikaşifoğlu Mehmet

Abstract excerpt

GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. GRID2 encodes the glutamate receptor subunit delta-2, selectively expressed in cerebellar Purkinje cells. The phenotype associated with loss of GRID2 function was described only in mice until now, characterized by different degrees of cerebellar ataxia and usually relatively mild abnormalities of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23611888
DOI: 10.1177/0883073813484967

Genes

GRID2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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