Aliases for L1CAM Gene
External Ids for L1CAM Gene
Previous HGNC Symbols for L1CAM Gene
Previous GeneCards Identifiers for L1CAM Gene
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 X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
GeneCards Summary for L1CAM Gene
L1CAM (L1 Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with L1CAM include Masa Syndrome and Corpus Callosum, Partial Agenesis Of, X-Linked. Among its related pathways are Neuroscience and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein self-association. An important paralog of this gene is CHL1.
UniProtKB/Swiss-Prot Summary for L1CAM Gene
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.