The protein encoded by this gene 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. (provided by RefSeq)
Immunogen
L1CAM (NP_000416, 23 a.a. ~ 132 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
The gene L1CAM (L1 cell adhesion molecule) encodes a glycoprotein that functions in axon growth during development and axon bundling. It interacts with Schwann cells and axons, and mediates neuronal cell migration, and neuronal cell survival. Overexpression of this protein is associated with tumor progression. It has been found to mediate therapeutic resistance in ovarian and pancreatic cancer cells.
L1CAM regulates DNA damage checkpoint response of glioblastoma stem cells through NBS1.
Cheng L
The Embo Journal, 30, 800-813 (2011)
An updated and upgraded L1CAM mutation database.
Vos YJ and Hofstra RM
Human Mutation, 31, E1102-E1109 (2010)
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