Function
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.
Biological Context
Subcellular Location: Endoplasmic reticulum; Cytoplasm
Tissue Specificity: Abundantly expressed in the occipital cortex and weakly expressed in the hippocampus (at protein level)
Disease Association: Epilepsy, familial temporal lobe, 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. [The disease is caused by variants affecting the gene represented in this entry] | Developmental and epileptic encephalopathy 121 (DEE121) : A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE121 is an autosomal recessive form characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability. Death in infancy, childhood, or early adulthood is frequent. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Leucine-rich glioma-inactivated protein 1 (LGI1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 224-557aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 46.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
