Function
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.
Biological Context
Subcellular Location: Cell membrane (Single-pass type I membrane protein); Cell projection, growth cone; Cell projection, axon; Cell projection, dendrite
Disease Association: Hydrocephalus, congenital, X-linked (HYCX) : An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder. [The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease ] | MASA syndrome (MASA) : An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. [The disease is caused by variants affecting the gene represented in this entry] | [Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis] | Agenesis of the corpus callosum, X-linked, partial (ACCPX) : A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. [The disease is caused by variants affecting the gene represented in this entry] | [Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HYCX) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HYCX and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum]
Product Specifications
Recombinant Human Neural cell adhesion molecule L1 (L1CAM), partial (Active) is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 20-1120aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 128.2kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
