GRID2 encodes glutamate ionotropic receptor delta type subunit 2 (1,007 aa). Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system. Highest expression in Brain Cerebellum (10.4 TPM) and Brain Cerebellar Hemisphere (7.5 TPM).

Autosomal recessive spinocerebellar ataxia 18 is associated with mutations in the GRID2 gene on chromosome 4.

GRID2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 26.1.

Genetic testing for GRID2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features, 1 very common feature, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 18.

2 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 18. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]

• Mahdieh N (2024). [PMID: 38570878](https://pubmed.ncbi.nlm.nih.gov/38570878/). *Human genomics*. [Epidemiology / Natural History]