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TTC37 encodes a protein with twenty tetratricopeptide (TPR) repeats.
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Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L (show SKIV2L Antibodies) and TTC37 genes, including one nonsense, one frameshift, and one missense mutations.
A PubMed search for bi-allelic TTC37 mutations and phenotypes were recorded in 14 Asian and 12 non-Asian cases
This is a report of novel mutations in TTC37 in individuals of East Asian descent. * Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.
TTC37 is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in tricho-hepato-enteric syndrome
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome.
, TPR repeat protein 37
, tetratricopeptide repeat protein 37
, tricho-hepatic-enteric syndrome protein
, thespin homolog