Aliases for LGI1 Gene
External Ids for LGI1 Gene
Previous HGNC Symbols for LGI1 Gene
Previous GeneCards Identifiers for LGI1 Gene
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]
GeneCards Summary for LGI1 Gene
LGI1 (Leucine-Rich, Glioma Inactivated 1) is a Protein Coding gene. Diseases associated with LGI1 include Epilepsy, Familial Temporal Lobe, 1 and Glioma. Among its related pathways are Developmental Biology and LGI-ADAM interactions. GO annotations related to this gene include receptor binding. An important paralog of this gene is ADGRA1.
UniProtKB/Swiss-Prot for LGI1 Gene
Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.