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l1cam

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Official Full Name
L1 cell adhesion molecule
Background
L1, also known as L1CAM, is a transmembrane protein; it is a neuronal cell adhesion molecule, member of the L1 protein family, of 200-220 kDa, and involved in axon guidance and cell migration with a strong implication in treatment-resistant cancers. L1CAM has also been designated CD171 ( cluster of differentiation 171 ). The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin superfamily of proteins. 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.
Synonyms
antigen identified by monoclonal antibody R1; CAML1; CD 171; CD171; CD171 antigen; HGNC:7086; HSAS; HSAS1; Hyd; L1; L1 cell adhesion molecule; L1-NCAM; L1cam; L1CAM_HUMAN; MASA; MIC 5; MIC5; N CAM L1; N CAML1; N-CAM-L1; NCAM-L1; NCAML1; Nerve-growth factor-inducible large external glycoprotein; Neural cell adhesion molecule L1; NEURAL CELL ADHESION MOLECULE L1 PRECURSOR; NILE; OTTHUMP00000025992; S10; SPG 1; SPG1; neuronal-glial cell adhesion molecule; ng-CAM; neuron-glia cell adhesion molecule (Ng-CAM)