Lgi4

LGI4 (Leucine Rich Repeat LGI Family Member 4) is a protein coding gene. Diseases associated with LGI4 include Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defectand Epilepsy, Familial Temporal Lobe, 1. Among its related pathways are Developmental Biology and LGI-ADAM interactions.

Full Name

LGI4

Function

Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).

Biological Process

Adult locomotory behaviorIEA:Ensembl
Glial cell proliferationIEA:Ensembl
Myelination in peripheral nervous systemManual Assertion Based On ExperimentIBA:GO_Central
Neuron maturationManual Assertion Based On ExperimentIBA:GO_Central
Regulation of myelinationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Secreted

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.