TTC37, or Tetratricopeptide Repeat Domain 37, is a protein encoded by the TTC37 gene in humans. It is part of the TPR protein family, which is characterized by repeated 34-amino acid motifs that form a particular helical structure, facilitating protein-protein interactions. TTC37 is involved in a variety of cellular processes, including intracellular trafficking and protein transport, which are essential for maintaining cellular homeostasis.
The protein is notably implicated in the SKI complex, a multiprotein complex that is involved in the regulation of various aspects of RNA metabolism, including mRNA decay. The SKI complex is critical for the exosome-mediated RNA surveillance pathway, ensuring the degradation of aberrant RNAs and the regulation of normal mRNA levels.Mutations in the TTC37 gene are associated with trichohepatoenteric syndrome (THES), also known as syndromic diarrhea. THES is a rare autosomal recessive disorder characterized by severe diarrhea in infancy, poor growth, distinctive facial features, hair abnormalities, and liver disease.
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