About: Leucine-Rich Glioma-Inactivated Protein     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Leucine-Rich Glioma-Inactivated Protein
rdfs:subClassOf
OMIM_Number
  • 604619
Semantic_Type
  • Amino Acid, Peptide, or Protein
  • Biologically Active Substance
Preferred_Name
  • Leucine-Rich Glioma-Inactivated Protein
UMLS_CUI
  • C0761756
Legacy_Concept_Name
  • Leucine-Rich_Glioma-Inactivated_Protein
FULL_SYN
  • Epitempin 1SYNCI
  • Leucine-Rich Glioma-Inactivated 1SYNCI
  • LGI1 ProteinSYNCI
  • LGI1SYNCI
  • Leucine-Rich Glioma-Inactivated ProteinPTNCI
  • BA512J3.1SYNCI
  • Leucine-Rich Glioma-Inactivated Protein 1SYNCI
Swiss_Prot
  • O95970
DEFINITION
  • 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)NCI
code
  • C26353
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