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FLASH GENE
Symbol LGI4 contributors: mct/npt - updated : 10-05-2017
HGNC name leucine-rich repeat LGI family, member 4
HGNC id 18712
DNA
TYPE functioning gene
STRUCTURE 10.76 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2906 - 537 - 2010 20220021
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus   highly
Nervousbrain    
cells
SystemCellPubmedSpeciesStageRna symbol
NervousSchawnn cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four EAR repeats (epilepsy-associated repeat domain)
  • four LRR (leucine-rich) repeats
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drsophila CG11989
    homolog to C.elegans K07H8.3
    Homologene
    FAMILY
  • leucine-rich repeat LGI family
  • CATEGORY secretory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • component of Schwann cell signaling pathway that controls axon segregation and myelin formation (Bermingham 2006)
  • regulated the functional maturation and structural pruning of glutamatergic synapses during postnatal development, and in postnatal developmental myelination of peripheral nerves (Zhou 2009)
  • novel functions for LGI4 regulating the proliferation and maturation of glial lineage cells throughout the PNS
  • is required for proliferation of glia in the peripheral nervous system and binds to a neuronal receptor, ADAM22, to foster ensheathment and myelination of axons by Schwann cells
  • identified as a new component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation
  • secreted protein that is required for Schwann cell development and differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds ADAM11, ADAM22, ADAM23 (LGI-ADAM system seems to be regulated not only by the affinity but also by the cell-type-specific expression of each protein)(Sagane 2008)
  • bind to the cell surface receptor ADAM22, which is expressed by neurons
  • is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS12
    Susceptibility
  • to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy
  • Variant & Polymorphism other
  • c.1914GC --> AT polymorphism, associated to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy (Gu 2004)
  • c.1722G/A polymorphism might contribute to the susceptibility to BFIC
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyleukoencephalopathy 
    may be regarded as a novel therapeutic target to stimulate myelination
    ANIMAL & CELL MODELS
  • Lgi4-deficient mice exhibited a more severe phenotype than claw paw mice and had gliogenic defects in sensory, sympathetic, and enteric ganglia