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ETL1

Chr 10AD

leucine rich glioma inactivated 1

Also known as: ADLTE, ADPAEF, ADPEAF, DEE121, EPITEMPIN, EPT, ETL1, IB1099

NCBI Gene: 9211 OMIM: 600512

The protein is a secreted leucine-rich repeat protein that regulates voltage-gated potassium channel activity and is involved in neuronal growth regulation and cell survival. Mutations cause autosomal dominant familial temporal lobe epilepsy. This follows autosomal dominant inheritance with a GeneReviews entry available for comprehensive clinical guidance.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— ETL1

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/ETL1?content-type=application/json&expand=1

gnomad: Error: Gene not found