Gene Symbol | LGI1 |
Entrez Gene ID | 9211 |
Full Name | leucine rich glioma inactivated 1 |
Synonyms | ADLTE,ADPAEF,ADPEAF,EPITEMPIN,EPT,ETL1,IB1099 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, familial temporal lobe, 1, 600512 (3) |