Function
Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation.
Biological Context
Subcellular Location: Secreted
Tissue Specificity: Widely expressed, with highest expression in brain
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Leucine-rich repeat LGI family member 4 (LGI4) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 20-537aa, with N-terminal 6xHis-tagged tag, molecular weight 61.6kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
