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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed March 2014

What is the official name of the TTC37 gene?

The official name of this gene is “tetratricopeptide repeat domain 37.”

TTC37 is the gene's official symbol. The TTC37 gene is also known by other names, listed below.

What is the normal function of the TTC37 gene?

The TTC37 gene provides instructions for making a protein whose function has not been confirmed. Based on its similarity to a protein in other organisms, researchers speculate that the TTC37 protein acts as part of a group of proteins called the SKI complex. This complex is thought to be necessary for the function of another large protein complex known as the cytosolic exosome. Within cells, the cytosolic exosome helps to recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that the cytosolic exosome's role in getting rid of excess and abnormal mRNA is important for cell growth.

Does the TTC37 gene share characteristics with other genes?

The TTC37 gene belongs to a family of genes called TTC (tetratricopeptide (TTC) repeat 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? ( in the Handbook.

How are changes in the TTC37 gene related to health conditions?

trichohepatoenteric syndrome - caused by mutations in the TTC37 gene

At least 25 mutations in the TTC37 gene have been found to cause trichohepatoenteric syndrome, a rare condition that affects many parts of the body. Its major signs and symptoms include chronic diarrhea starting in infancy, hair abnormalities, distinctive facial features, and liver disease. Mutations in this gene likely eliminate the function of the TTC37 protein. Researchers hypothesize that a loss of this protein's function impairs the activity of the SKI complex and the cytosolic exosome. However, it is unknown how these changes could lead to chronic diarrhea and the other features of trichohepatoenteric syndrome.

Where is the TTC37 gene located?

Cytogenetic Location: 5q15

Molecular Location on chromosome 5: base pairs 95,463,894 to 95,555,004

The TTC37 gene is located on the long (q) arm of chromosome 5 at position 15.

The TTC37 gene is located on the long (q) arm of chromosome 5 at position 15.

More precisely, the TTC37 gene is located from base pair 95,463,894 to base pair 95,555,004 on chromosome 5.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about TTC37?

You and your healthcare professional may find the following resources about TTC37 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 TTC37 gene or gene products?

  • KIAA0372
  • Ski3
  • SKI3 homolog
  • tetratricopeptide repeat protein 37
  • thespin
  • TPR repeat protein 37
  • tricho-hepatic-enteric syndrome protein

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding TTC37?

cell ; chronic ; DNA ; domain ; enteric ; gene ; hepatic ; messenger RNA ; mRNA ; protein ; RNA ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22. (
  • Fabre A, Martinez-Vinson C, Goulet O, Badens C. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Review. (
  • Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. (
  • Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20. (
  • NCBI Gene (
  • van Dijk EL, Schilders G, Pruijn GJ. Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. RNA. 2007 Jul;13(7):1027-35. Epub 2007 Jun 1. (


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? ( in the Handbook.

Reviewed: March 2014
Published: July 27, 2015