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Genetics Home Reference: your guide to understanding genetic conditions
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SLITRK1

Reviewed May 2008

What is the official name of the SLITRK1 gene?

The official name of this gene is “SLIT and NTRK-like family, member 1.”

SLITRK1 is the gene's official symbol. The SLITRK1 gene is also known by other names, listed below.

What is the normal function of the SLITRK1 gene?

The SLITRK1 gene provides instructions for making a protein that is a member of the SLITRK family. Proteins in this family are found in the brain, where they play a role in the growth and development of nerve cells. The SLITRK1 protein may help guide the growth of specialized extensions (axons and dendrites) that allow each nerve cell to communicate with nearby cells.

How are changes in the SLITRK1 gene related to health conditions?

Tourette syndrome - associated with the SLITRK1 gene

Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. One of these mutations, written as del1264C, deletes a single DNA building block (base pair) from the gene. This mutation leads to the production of an abnormally short, nonfunctional version of the SLITRK1 protein. Another mutation changes a single base pair in a region of DNA near the gene. This change probably interferes with production of the SLITRK1 protein. Although the SLITRK1 gene is active in areas of the brain known to be involved in Tourette syndrome, it is unclear how mutations in or near the gene lead to the behavioral features of this condition. Because mutations have been reported in so few people with Tourette syndrome, the association of the SLITRK1 gene with this disorder has not been confirmed.

Where is the SLITRK1 gene located?

Cytogenetic Location: 13q31.1

Molecular Location on chromosome 13: base pairs 84,451,342 to 84,456,527

The SLITRK1 gene is located on the long (q) arm of chromosome 13 at position 31.1.

The SLITRK1 gene is located on the long (q) arm of chromosome 13 at position 31.1.

More precisely, the SLITRK1 gene is located from base pair 84,451,342 to base pair 84,456,527 on chromosome 13.

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 SLITRK1?

You and your healthcare professional may find the following resources about SLITRK1 helpful.

  • Educational resources - Information pages
    National Institute for Neurological Disorders and Stroke: Press Release: Scientists Discover First Gene for Tourette Syndrome (December 15, 2005) (http://www.ninds.nih.gov/news_and_events/news_articles/news_article_Tourette_gene_121505.htm)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK21138/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SLITRK1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114798%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SLITRK1%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/609678)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/114798)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=114798)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=20297)

What other names do people use for the SLITRK1 gene or gene products?

  • KIAA0918
  • KIAA1910
  • leucine rich repeat containing 12
  • LRRC12
  • SLIK1_HUMAN
  • slit and trk like 1 protein
  • slit and trk like gene 1

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 SLITRK1?

axons ; base pair ; cell ; DNA ; gene ; leucine ; mutation ; nerve cell ; 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

  • Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14;310(5746):317-20. (http://www.ncbi.nlm.nih.gov/pubmed/16224024?dopt=Abstract)
  • Aruga J, Yokota N, Mikoshiba K. Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. Gene. 2003 Oct 2;315:87-94. (http://www.ncbi.nlm.nih.gov/pubmed/14557068?dopt=Abstract)
  • Deng H, Le WD, Xie WJ, Jankovic J. Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome. Acta Neurol Scand. 2006 Dec;114(6):400-2. (http://www.ncbi.nlm.nih.gov/pubmed/17083340?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/114798)
  • Grados MA, Walkup JT. A new gene for Tourette's syndrome: a window into causal mechanisms? Trends Genet. 2006 Jun;22(6):291-3. Epub 2006 May 4. (http://www.ncbi.nlm.nih.gov/pubmed/16678301?dopt=Abstract)
  • Olson S. Medicine. Teenager's odd chromosome points to possible Tourette syndrome gene. Science. 2005 Oct 14;310(5746):211. (http://www.ncbi.nlm.nih.gov/pubmed/16223990?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: May 2008
Published: May 20, 2013