| umls-concept:C0761756 | skos:definition | NCI: Predominantly expressed in neural tissues and encoded by human LGI1 Gene, a 557-amino acid 64-kD precursor yields mature 60-kD putative tumor suppressor Leucine-Rich Glioma-Inactivated Protein, containing a putative extracellular N-terminus and hydrophobic transmembrane segment, as well as leucine-rich repeats (LRR) with conserved cysteine-rich flanking sequences. LGI1 shows high similarity in the LRR domain with transmembrane and extracellular receptors and adhesion proteins. Translocation rearrangements of LGI1 reduce or abrogate expression in several glioblastomas and brain tumors. LGI1 mutations appear responsible for autosomal dominant partial epilepsy with auditory features. (from LocusLink, Swiss-Prot, OMIM, and NCI) | lld:umls |
