Leucine-Rich, Glioma Inactivated 1 (LGI1) ELISA Kit for Human

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]

LGI1: 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. 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. Defects in LGI1 are the cause of epilepsy, familial temporal lobe, type 1 (ETL1). A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 10q24

Cellular Component: extracellular space; extracellular region; synapse; cell junction

Molecular Function: protein binding; receptor binding

Biological Process: nervous system development; cell proliferation; axon guidance; positive regulation of cell growth; positive regulation of synaptic transmission; protein homooligomerization; neurite development

Disease: Epilepsy, Familial Temporal Lobe, 1