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

  • Kakanahalli Nagaraj
  • Rula Mualla
  • Michael HortschEmail author
Chapter
Part of the Advances in Neurobiology book series (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.

Keywords

Hereditary Spastic Paraplegia Septate Junction Affect Amino Acid L1CAM Gene CHL1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Compliance with Ethics Requirements

The authors declare that they have no conflicts of interest.

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Kakanahalli Nagaraj
    • 1
  • Rula Mualla
    • 2
  • Michael Hortsch
    • 2
    Email author
  1. 1.Department of Applied ZoologyKuvempu UniversityShankaraghattaIndia
  2. 2.Department of Cell and Developmental BiologyUniversity of MichiganAnn ArborUSA

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