TTC37 Gene

TTC37 (TTC37 stands for "Tetratricopeptide Repeat Domain 37") is a protein coding gene located on chromosome 5q15.

The TTC37 gene encodes a protein with twenty tetratricopeptide repeats (TPR). Motifs containing tetratricopeptide repeats are found in a variety of proteins and can mediate protein-protein interactions and chaperone activity.

Diseases associated with TTC37 include:

• Trichohepatoenteric syndrome 1 (broad phenotypic features: intrauterine growth retardation, woolly hair(trichorrhexis nodosa - Landers MC et al 2003), facial dysmorphism, intractable diarrhea in infancy requiring complete parenteral nutrition, and signs of immunodeficiency. (Hartley JL et al 2010).

1. Barabino AV et al. (2004) Syndromic diarrhea' may have better outcome than previously reported. J. Pediat. 144: 553-554.
2. Hartley JL et al (2010) Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138: 2388-2398.
3. Landers MC et al (2003) Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. Pediat Derm 20: 432-435.
4. Stankler L et al (1982) Unexplained diarrhea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child 57: 212-216.
5. Verloes A et al (1997) Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet 68: 391-395.