title: The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
abstract: L1-type proteins are transmembrane cell adhesion molecules with an evolutionary well-conserved protein domain structure of usually six immunoglobulin and five fibronectin type III domains. By engaging in many different protein-protein interactions they are involved in a multitude of molecular functions and are important players during the formation and maintenance of metazoan nervous systems. As a result, mutations in L1-type genes cause a great variety of phenotypes, most of which are neurological in nature. In humans, mutations in the L1CAM gene are responsible for L1 syndrome and other L1-type genes have been implicated in conditions as varied as mental retardation, autism, schizophrenia, multiple sclerosis, and other disorders. Equally, the overexpression of L1-type proteins appears to have deleterious effects in various types of human tumor cells, where they generally contribute to an increase in cell mobility and metastatic potential.
authors.forename: Michael
authors.initials: M
authors.lastname: Hortsch
authors.forename: Kakanahalli
authors.initials: K
authors.lastname: Nagaraj
authors.forename: Rula
authors.initials: R
authors.lastname: Mualla
mesh_terms: D000818:Animals; D002448:Cell Adhesion / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008954:Models, Biological; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics* / Q000378:metabolism*; D039842:Neural Cell Adhesion Molecule L1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D010802:Phylogeny
chemical_list: D039842:Neural Cell Adhesion Molecule L1