Aliases for LGI1 Gene
External Ids for LGI1 Gene
Previous HGNC Symbols for LGI1 Gene
Previous GeneCards Identifiers for LGI1 Gene
This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq, Jul 2008]
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 autosomal dominant partial epilepsy with auditory features. GO annotations related to this gene include receptor binding. An important paralog of this gene is LGI4.
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.