L1 (protein)
L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation. It also plays a key role in treatment-resistant cancers due to its function. It was first identified in 1984 by M. Schachner who found the protein in post-mitotic mice neurons.
L1CAM | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1 cell adhesion molecule | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 308840 MGI: 96721 HomoloGene: 20128 GeneCards: L1CAM | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Mutations in the L1 protein are the cause of L1 syndrome, sometimes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus).
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