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Cell Adhesion Molecules pp 195–229Cite as

The L1 Family of Cell Adhesion Molecules: A Sickening Number of Mutations and Protein Functions

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Part of the book series: Advances in Neurobiology ((NEUROBIOL,volume 8))

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.

An erratum to this chapter is available at http://dx.doi.org/10.1007/978-1-4614-8090-7_15

An erratum to this chapter can be found at http://dx.doi.org/10.1007/978-1-4614-8090-7_15

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Authors and Affiliations

  1. Department of Applied Zoology, Kuvempu University, Shankaraghatta, Shimoga, India

    Kakanahalli Nagaraj Ph.D.

  2. Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, 48109, USA

    Rula Mualla B.Sc. & Michael Hortsch Ph.D.

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  1. Kakanahalli Nagaraj Ph.D.
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  2. Rula Mualla B.Sc.
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  3. Michael Hortsch Ph.D.
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Correspondence to Michael Hortsch Ph.D. .

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  1. Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark

    Vladimir Berezin

  2. Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark

    Peter S. Walmod

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Nagaraj, K., Mualla, R., Hortsch, M. (2014). The L1 Family of Cell Adhesion Molecules: A Sickening Number of Mutations and Protein Functions. In: Berezin, V., Walmod, P. (eds) Cell Adhesion Molecules. Advances in Neurobiology, vol 8. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8090-7_9

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