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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCCS12 lethal congenital contracture syndrome 12
Location	19q13.11      Physical location : 35.615.416 - 35.626.178
Synonym name	LGI1-like protein 3
	leucine-rich glioma-inactivated protein 4
Synonym symbol(s)	LGIL3

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_139284 9 - 2906 NP_644813 - 537 - 2010 20220021

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus       highly Nervous brain

cells

System Cell Pubmed Species Stage Rna symbol Nervous Schawnn 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
	System Type Disorder Pubmed neurology leukoencephalopathy   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