Synonyms:ADLTE, ADPAEF, ADPEAF, ENTREZ:9211, EPITEMPIN, EPT, ETL1, HGNC:6572, IB1099, LGI1, MIM:604619, NM_001308275, NM_001308276, NM_005097, NP_001295204, NP_001295205, NP_005088, NR_131777, XM_017016911, XM_017016912, XP_016872400, XP_016872401, leucine rich glioma inactivated 1
Omim:OMIM:604619
Id:ENSG00000108231
Hgnc:HGNC:6572
Description:leucine rich glioma inactivated 1
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]