Bio Background |
L1CAM is an axonal glycoproteinbelonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains andfibronectin-like repeats (type III), is linked via a singletransmembrane sequence to a conserved cytoplasmic domain. This celladhesion molecule plays an important role in nervous systemdevelopment, including neuronal migration and differentiation.Mutations in the gene cause three X-linked neurological syndromesknown by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus).Alternative splicing of a neuron-specific exon is thought to befunctionally relevant. |
Bio References |
Schafer, M.K., et al. FEBS Lett. 584(21):4475-4480(2010)Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Bertolin, C., et al. J. Neurol. Sci. 294 (1-2), 124-126 (2010) :Schafer, M.K., et al. Cell. Mol. Life Sci. 67(14):2425-2437(2010)Gavert, N., et al. J. Cell. Sci. 123 (PT 12), 2135-2143 (2010) : |