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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.
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Protein Aliases: antigen identified by monoclonal antibody R1; CD 171; CD171; CD171 molecule; N-CAM-L1; Neural cell adhesion molecule L1; sCD171; sL1 CAM; sL1CAM; soluble CD 171; soluble CD171; soluble L1 CAM; soluble L1CAM
Gene Aliases: CAML1; CD171; HSAS; HSAS1; L1CAM; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; S10; SPG1
UniProt ID: (Human) P32004
Entrez Gene ID: (Human) 3897
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