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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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LGI4
leucine rich repeat LGI family member 4
Chromosome 19 Β· 19q13.12|19q13.11
NCBI Gene: 163175Ensembl: ENSG00000153902.15HGNC: HGNC:18712UniProt: A5D6Y5
14PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of myelinationmyelination in peripheral nervous systemneuron maturationGO:0005615Neurogenic arthrogryposis multiplex congenitaHypomyelination neuropathy - arthrogryposisarthrogryposis multiplex congenitahypomyelination neuropathy-arthrogryposis syndrome
✦AI Summary

LGI4 (leucine-rich repeat LGI family member 4) is a component of Schwann cell signaling pathways essential for peripheral nervous system development. Its primary function involves regulating axon segregation and myelination through interactions with ADAM22 and ADAM23 cell surface receptors 1. Specifically, LGI4-ADAM22 interactions are required for axonal sorting and proper myelin formation during PNS development, with key functional residues localized to the outer surface of the LGI4 protein 1. Loss-of-function mutations in LGI4 cause arthrogryposis multiplex congenita (AMC) with myelin defects, characterized by congenital joint contractures and neurogenic involvement 23. Phenotypic severity correlates with transcript levels, with biallelic variants producing variable clinical presentations ranging from severe neonatal-lethal forms to milder phenotypes with cognitive and speech delays 3. Beyond developmental roles, LGI4 participates in inflammatory regulation. Anti-LGI4 autoantibodies (primarily IgG4) cause autoimmune nodopathy presenting as chr19 inflammatory demyelinating polyneuropathy (CIDP), manifesting in elderly patients with motor weakness, sensory impairment, and extremely elevated cerebrospinal fluid protein 45. Additionally, IGF2BP2-mediated m6A-dependent stabilization of LGI4 mRNA suppresses MEK1/2-ERK1/2 signaling and inflammation in intestinal epithelial cells, suggesting broader roles in mucosal immunity 6.

Sources cited
1
LGI4-ADAM22 interactions required for axonal sorting and myelination; key functional residues identified on LGI4 protein surface
PMID: 24715463
2
LGI4 mutations identified as cause of arthrogryposis multiplex congenita in genetic diagnosis study
PMID: 33820833
3
Biallelic LGI4 variants cause AMC with variable phenotypic severity correlating with mRNA transcript levels
PMID: 31513940
4
Anti-LGI4 antibodies cause autoimmune nodopathy with myelin alterations and Schwann cell dysfunction affecting myelination regulators
PMID: 41092257
5
Anti-LGI4 IgG4 antibodies identified in CIDP patients with nodal/juxtaparanodal localization and reduced Krox20 expression in Schwann cells
PMID: 36631269
6
IGF2BP2 stabilizes LGI4 mRNA via m6A modification to suppress MEK1/2-ERK1/2 inflammatory signaling in intestinal epithelial cells
PMID: 40663812
Disease Associationsβ“˜21
Neurogenic arthrogryposis multiplex congenitaOpen Targets
0.73Strong
Hypomyelination neuropathy - arthrogryposisOpen Targets
0.73Strong
arthrogryposis multiplex congenitaOpen Targets
0.59Moderate
hypomyelination neuropathy-arthrogryposis syndromeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
arthrogryposis multiplex congenita 2, neurogenic typeOpen Targets
0.34Weak
fetal akinesia deformation sequenceOpen Targets
0.33Weak
fetal akinesia deformation sequence 1Open Targets
0.33Weak
Hodgkins lymphomaOpen Targets
0.26Weak
chronic inflammatory demyelinating polyneuropathyOpen Targets
0.11Weak
gliomaOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
autosomal dominant slowed nerve conduction velocityOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
adult-onset autosomal dominant demyelinating leukodystrophyOpen Targets
0.06Suggestive
retinal degenerationOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
Autosomal dominant intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease dominant intermediate BOpen Targets
0.05Suggestive
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defectUniProt
Pathogenic Variants17
NM_139284.3(LGI4):c.834del (p.Ser279fs)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜…β˜†β˜†β˜†2024β†’ Residue 279
NM_139284.3(LGI4):c.774_778dup (p.Glu260fs)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜…β˜†β˜†β˜†2023β†’ Residue 260
NM_139284.3(LGI4):c.312C>A (p.Tyr104Ter)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜…β˜†β˜†β˜†2023β†’ Residue 104
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)Likely pathogenic
Arthrogryposis multiplex congenita;Fetal akinesia deformation sequence 1
β˜…β˜†β˜†β˜†2019β†’ Residue 344
NM_139284.3(LGI4):c.830del (p.Gly277fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 277
NM_139284.3(LGI4):c.263_265del (p.Phe88del)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜…β˜†β˜†β˜†β†’ Residue 88
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜…β˜†β˜†β˜†β†’ Residue 424
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)Pathogenic
Arthrogryposis multiplex congenita 2, neurogenic type
β˜…β˜†β˜†β˜†β†’ Residue 1
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2025β†’ Residue 288
NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2021β†’ Residue 321
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2020β†’ Residue 434
NM_139284.3(LGI4):c.1299+5G>TPathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2020
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2020β†’ Residue 258
NM_139284.3(LGI4):c.793+5G>CPathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2020
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2020β†’ Residue 265
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)Pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2018β†’ Residue 385
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)Likely pathogenic
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
β˜†β˜†β˜†β˜†2018β†’ Residue 67
View on ClinVar β†—
Related Genes
ADAM23Protein interaction80%ADAM22Protein interaction80%ADAM11Protein interaction72%SMIM45Shared pathway33%NCMAPShared pathway25%NKX6-2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
79%
Ovary
55%
Lung
54%
Liver
48%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
LGI4ADAM23ADAM22ADAM11SMIM45NCMAPNKX6-2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N135
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.95 [0.72–1.25]
RankingsWhere LGI4 stands among ~20K protein-coding genes
  • #15,907of 20,598
    Most Researched14
  • #2,373of 5,498
    Most Pathogenic Variants17
  • #13,240of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedLGI4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
PMID: 33820833
J Med Genet Β· 2022
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Clinical Spectrum, Pathology, and Mechanisms of Anti-LGI4 Antibody-Positive Autoimmune Nodopathy.
PMID: 41092257
Neurol Neuroimmunol Neuroinflamm Β· 2025
0.80
4
Anti-LGI4 Antibody Is a Novel Juxtaparanodal Autoantibody for Chronic Inflammatory Demyelinating Polyneuropathy.
PMID: 36631269
Neurol Neuroimmunol Neuroinflamm Β· 2023
0.70
5
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.
PMID: 31513940
Eur J Med Genet Β· 2020
0.60