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

PRRT gene family

Reviewed January 2014

What are the PRRT genes?

The PRRT gene family includes genes that provide instructions for making proteins called proline-rich transmembrane (PRRT) proteins. These proteins have certain regions called transmembrane domains that span the membrane surrounding cells, such that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell.

Other regions of PRRT proteins, called proline-rich regions, have an abundance of the protein building block (amino acid) proline. Because of the structure of this amino acid, proline-rich regions allow PRRT proteins to interact with other proteins.

Little is known about the function of proteins produced from genes in the PRRT gene family. At least two, PRRT1 and PRRT2, seem to be involved in signaling between nerve cells (neurons) in the brain. Mutations in the PRRT2 gene can cause several neurological conditions that involve involuntary movements, paralysis, or both, including familial paroxysmal kinesigenic dyskinesia and familial hemiplegic migraine.

Which genes are included in the PRRT gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the PRRT family (http://www.genenames.org/genefamilies/PRRT).

Genetics Home Reference summarizes the normal function and health implications of this member of the PRRT gene family: PRRT2.

What conditions are related to genes in the PRRT gene family?

Genetics Home Reference includes these conditions related to genes in the PRRT gene family:

  • familial hemiplegic migraine
  • familial paroxysmal kinesigenic dyskinesia

What glossary definitions help with understanding the PRRT gene family?

amino acid ; cell ; dyskinesia ; familial ; gene ; hemiplegic ; involuntary ; migraine ; neurological ; proline ; protein ; transmembrane

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

References

These sources were used to develop the Genetics Home Reference summary for the PRRT gene family.

  • Kay BK, Williamson MP, Sudol M. The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains. FASEB J. 2000 Feb;14(2):231-41. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10657980?dopt=Abstract)
  • Williamson MP. The structure and function of proline-rich regions in proteins. Biochem J. 1994 Jan 15;297 ( Pt 2):249-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/8297327?dopt=Abstract)
  • Schwenk J, Harmel N, Brechet A, Zolles G, Berkefeld H, Müller CS, Bildl W, Baehrens D, Hüber B, Kulik A, Klöcker N, Schulte U, Fakler B. High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes. Neuron. 2012 May 24;74(4):621-33. doi: 10.1016/j.neuron.2012.03.034. (http://www.ncbi.nlm.nih.gov/pubmed/22632720?dopt=Abstract)
  • Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013 Jun;20(6):872-8. doi: 10.1111/ene.12104. Epub 2013 Feb 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23398397?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: January 2014
Published: October 20, 2014