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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Glycosylated.
Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas.
Isoform 1
Expressed in the occipital cortex and hippocampus; higher amounts are observed in the parietal and frontal cortices, putamen, and, particularly, in the temporal neocortex, where it is between 3 and 5 times more abundant than in the hippocampus (at protein level) (PubMed:16787412). Expression is absent in the cerebellum (PubMed:16787412).
Isoform 3
Abundantly expressed in the occipital cortex and weakly expressed in the hippocampus (at protein level).
EPT, UNQ775/PRO1569, LGI1, Leucine-rich glioma-inactivated protein 1, Epitempin-1
Proteins
Neuroscience
63818Da
We found 6 products in 2 categories
ab186296
ab30868
ab228613