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L1CAM/CD171 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.
antigen identified by monoclonal antibody R1; CAML1; CD 171; CD171; CD171 molecule; HSAS; HSAS1; Hyd; L1; L1 cell adhesion molecule; L1CAM; MASA; MIC5; N-CAM L1; NCAML1; N-CAML1; N-CAM-L1; NCAM-L1; Nerve-growth factor-inducible large external glycoprotein; neural cell adhesion molecule L1; NILE; S10; sCD171; sL1 CAM; sL1CAM; soluble CD 171; soluble CD171; soluble L1 CAM; soluble L1CAM; SPG1
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