Specifications
Target
Alternative Names
L1CAM; L1 cell adhesion molecule; antigen identified by monoclonal R1 , HSAS, HSAS1, MASA, MIC5, S10, SPG1; neural cell adhesion molecule L1; CD171; antigen identified by monoclonal R1; S10; HSAS; MASA; MIC5; SPG1; CAML1; HSAS1; N-CAML1; NCAM-L1; N-CAM-
Product Background
Antigen Description
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant.
Pathway
Axon guidance, organism-specific biosystem; Axon guidance, conserved biosystem; Axon guidance, organism-specific biosystem; Basigin interactions, organism-specific biosystem; Cell adhesion molecules (CAMs), organism-specific biosystem; Cell adhesion molecules (CAMs), conserved biosystem; Cell surface interactions at the vascular wall, organism-specific biosystem;
Citations
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