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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

L1CAM

Reviewed March 2008

What is the official name of the L1CAM gene?

The official name of this gene is “L1 cell adhesion molecule.”

L1CAM is the gene's official symbol. The L1CAM gene is also known by other names, listed below.

What is the normal function of the L1CAM gene?

The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the L1 protein to help activate various chemical signals within the cell. The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheath (myelin) that surrounds certain neurons, and the formation of junctions between nerve cells (synapses), where cell-to-cell communication occurs.

Does the L1CAM gene share characteristics with other genes?

The L1CAM gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the L1CAM gene related to health conditions?

L1 syndrome - caused by mutations in the L1CAM gene

There are about 200 mutations in the L1CAM gene that cause L1 syndrome. These mutations change the structure of the L1 protein or disrupt its production. Mutations that change one protein building block (amino acid) typically cause less severe signs and symptoms than mutations that disrupt the production of the L1 protein. All mutations, however, impair L1 protein function and interfere with the development and function of neurons, leading to the characteristic features of L1 syndrome.

Where is the L1CAM gene located?

Cytogenetic Location: Xq28

Molecular Location on the X chromosome: base pairs 153,861,513 to 153,886,173

The L1CAM gene is located on the long (q) arm of the X chromosome at position 28.

The L1CAM gene is located on the long (q) arm of the X chromosome at position 28.

More precisely, the L1CAM gene is located from base pair 153,861,513 to base pair 153,886,173 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about L1CAM?

You and your healthcare professional may find the following resources about L1CAM helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the L1CAM gene or gene products?

  • antigen identified by monoclonal antibody R1
  • CAML1
  • CD171
  • HSAS
  • HSAS1
  • L1CAM_HUMAN
  • MASA
  • MIC5
  • N-CAML1
  • neural cell adhesion molecule L1
  • S10
  • SPG1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding L1CAM?

adhesion molecule ; amino acid ; antibody ; cell ; cell adhesion ; cell membrane ; gene ; ligand ; molecule ; monoclonal ; monoclonal antibody ; nervous system ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Finckh U, Schröder J, Ressler B, Veske A, Gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6. (http://www.ncbi.nlm.nih.gov/pubmed/10797421?dopt=Abstract)
  • Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Hum Mutat. 2004 May;23(5):526. (http://www.ncbi.nlm.nih.gov/pubmed/15108295?dopt=Abstract)
  • Kenwrick S, Watkins A, De Angelis E. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet. 2000 Apr 12;9(6):879-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10767310?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3897)
  • OMIM: L1 CELL ADHESION MOLECULE (http://omim.org/entry/308840)
  • Panicker AK, Buhusi M, Thelen K, Maness PF. Cellular signalling mechanisms of neural cell adhesion molecules. Front Biosci. 2003 May 1;8:d900-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12700044?dopt=Abstract)
  • Weller S, Gärtner J. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11438988?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2008
Published: April 17, 2014