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LGI1 leucine rich glioma inactivated 1

Also known as: EPT; ETL1; ADLTE; ADPAEF; ADPEAF; IB1099; EPITEMPIN

Summary

This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Genomic context

Location:
10q23.33
Sequence:
Chromosome: 10; NC_000010.11 (93757770..93798174)
Total number of exons:
9

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