Chapter title |
The L1 Family of Cell Adhesion Molecules: A Sickening Number of Mutations and Protein Functions
|
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Chapter number | 9 |
Book title |
Cell Adhesion Molecules
|
Published in |
Advances in neurobiology, January 2014
|
DOI | 10.1007/978-1-4614-8090-7_9 |
Pubmed ID | |
Book ISBNs |
978-1-4614-8089-1, 978-1-4614-8090-7
|
Authors |
Michael Hortsch, Kakanahalli Nagaraj, Rula Mualla, Nagaraj, Kakanahalli, Mualla, Rula, Hortsch, Michael |
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. |
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