LGI4
Function
Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).
Involvement in disease
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
AMC1
A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed, with highest expression in brain.
Cellular localization
- Secreted
Alternative names
LGIL3, UNQ6515/PRO21485, LGI4, Leucine-rich repeat LGI family member 4, LGI1-like protein 3, Leucine-rich glioma-inactivated protein 4