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L1CAM

The L1CAM gene, which is located in Xq28, is involved in three distinct conditions: 1) HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius); 2) MASA (mental retardation, aphasia, shuffling gait, adductus thumbs); and 3) SPG1 (spastic paraplegia). The L1, neural cell adhesion molecule (L1CAM) also plays an important role in axon growth, fasciculation, neural migration and in mediating neuronal differentiation.

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