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Genetics Home Reference: your guide to understanding genetic conditions
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TRP gene family

Reviewed April 2012

What are the TRP genes?

Genes in the TRP family provide instructions for making a group of proteins called transient receptor potential cation channels. These channels transport positively charged atoms (cations) across membranes, most commonly the outer membrane that surrounds cells. Most TRP channels transport calcium, although some transport other cations such as sodium, magnesium, or iron. TRP channels are found in virtually every cell type in the body.

TRP channels have a large variety of functions. Many of these channels play a role in the body's ability to sense stimuli from the surrounding environment, such as pain, temperature, and taste. Other TRP channels are involved in maintaining a balance of various molecules in the body, including water balance (osmoregulation) and the reabsorption of calcium and magnesium by the kidneys. Still other TRP channels play roles in activities related to cell movement, such as the tensing of muscle fibers (muscle contraction).

Six subfamilies of TRP channels are recognized in humans: TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPA (ankyrin), TRPP (polycystin), and TRPML (mucolipin). These subfamilies are defined based on similarities with channels in other organisms, associations with specific human diseases, or structural features of the channels.

A variety of human diseases have been associated with changes in TRP genes. For example, mutations in the MCOLN1 gene result in mucolipidosis type IV, a disorder characterized by delayed development and progressive vision loss. TRPV4 gene mutations are associated with several skeletal and neurologic disorders. Mutations in two TRP genes, PKD1 and PKD2, can cause an inherited kidney disorder called polycystic kidney disease. Changes in other TRP gene family members have been associated with familial episodic pain syndrome and forms of hearing loss, vision loss, cancer, kidney disease, and cardiovascular disease.

Which genes are included in the TRP gene family?

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

Genetics Home Reference summarizes the normal function and health implications of these members of the TRP gene family: MCOLN1, PKD1, PKD2, TRPM1, and TRPV4.

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

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

  • autosomal recessive congenital stationary night blindness
  • Charcot-Marie-Tooth disease
  • metatropic dysplasia
  • mucolipidosis type IV
  • polycystic kidney disease

Where can I find additional information about the TRP gene family?

You may find the following resources about the TRP gene family helpful.

  • TRP Ion Channel Function in Sensory Transduction and Cellular Signaling Cascades (2007) (http://www.ncbi.nlm.nih.gov/books/NBK1856/)
  • IUPHAR Database (http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=78) (International Union of Basic and Clincial Pharmacology)
  • InterPro: Transient Receptor Potential Channel (http://www.ebi.ac.uk/interpro/entry/IPR004729)

What glossary definitions help with understanding the TRP gene family?

autosomal ; autosomal dominant ; calcium ; cancer ; cardiovascular ; cation ; cell ; channel ; contraction ; familial ; gene ; inherited ; iron ; kidney ; neurologic ; polycystic kidney ; receptor ; sodium ; syndrome ; transient ; Trp

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 TRP gene family.

  • Moran MM, McAlexander MA, Bíró T, Szallasi A. Transient receptor potential channels as therapeutic targets. Nat Rev Drug Discov. 2011 Aug 1;10(8):601-20. doi: 10.1038/nrd3456. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21804597?dopt=Abstract)
  • Nilius B, Owsianik G. The transient receptor potential family of ion channels. Genome Biol. 2011;12(3):218. doi: 10.1186/gb-2011-12-3-218. Epub 2011 Mar 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21401968?dopt=Abstract)
  • Wu LJ, Sweet TB, Clapham DE. International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family. Pharmacol Rev. 2010 Sep;62(3):381-404. doi: 10.1124/pr.110.002725. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20716668?dopt=Abstract)
  • Nilius B, Owsianik G. Transient receptor potential channelopathies. Pflugers Arch. 2010 Jul;460(2):437-50. doi: 10.1007/s00424-010-0788-2. Epub 2010 Feb 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20127491?dopt=Abstract)
  • Everett KV. Transient receptor potential genes and human inherited disease. Adv Exp Med Biol. 2011;704:1011-32. doi: 10.1007/978-94-007-0265-3_52. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21290338?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: April 2012
Published: December 16, 2014