Lgi4 è un gene codificato dal simbolo LGI4. Comunemente indicato anche come: Leucine-rich repeat LGI family member 4; LGI1-like protein 3; Leucine-rich glioma-inactivated protein 4; LGIL3. Lgi4 ha una massa di 59.14kDa, una lunghezza di amminoacidi di 537, ed è implicato in Arthrogryposis multiplex congenita, neurogenic, with myelin defect.
Offriamo 3 anticorpi contro Lgi4, allevati nel Coniglio e Ratto, che sono adatti per WB e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).
Specificità del tessuto
Widely expressed, with highest expression in brain.
Coinvolgimento nella malattia
Arthrogryposis multiplex congenita, neurogenic, with myelin defect: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY 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.
Posizione cellulare
Secreted.
