||Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).
|Gene References into Functions
- in four unrelated multiplex families presenting with severe arthrogryposis multiplex congenital, identified biallelic loss-of-function mutations in LGI4; functional tests showed these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein PMID: 28318499
- Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. PMID: 24662834
- The positive genotypic association between benign familial infantile convulsions (BFIC)and c.1722G/A polymorphism suggests that LGI4 might contribute to the susceptibility to BFIC. PMID: 19815358
- Schwann cells are the principal cellular source of Lgi4 in the developing nerve; transgenic Lgi4 binds directly to Adam22 without a requirement for additional membrane associated factors. PMID: 20220021
- Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms. PMID: 14505228
|Involvement in disease
||Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY)
||Widely expressed, with highest expression in brain.