Protein Name L1 cell adhesion molecule
Organism Homo sapiens
Gene ID 3897
Gene Symbol

L1CAM

UniProt P32004 (L1CAM_HUMAN)
Relationships Total Number of functionally related compound(s) : 769
Total Number of Articles : 746
Description

L1 cell adhesion molecule

Gene Summary

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]

synonyms
  • neural cell adhesion molecule L1
  • antigen identified by monoclonal antibody R1
  • CAML1
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Properties