TTC37 explained

TTC37 (Tetratricopeptide repeat domain 37) is a protein which in humans is encoded by gene TTC37, located on chromosome 5. ^{[1] [2]}

Structure

The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da. TTC37 contains six tetratricopeptide repeat domains.

Function

TTC37 is a component of the Ski complex which is involved in exosome mediated RNA decay.^[3]

Subcellular distribution

It is localized in the cytoplasmatic space and the cell nucleus.

Clinical significance

Mutation in the TTC37 gene are associated with tricho-hepato-enteric syndrome.^{[4] [5]}

Notes and References

1. Web site: HUGO Gene Nomenclature Committee, HGNC:23639 . en . 2017-09-18 . 2017-09-16 . https://web.archive.org/web/20170916094418/http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:23639 . dead .
2. Web site: UniProt, Q6PGP7 . en . 2017-09-18.
3. Kögel A, Keidel A, Bonneau F, Schäfer IB, Conti E . The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism . Molecular Cell . 82 . 4 . 756–769.e8 . February 2022 . 35120588 . 8860381 . 10.1016/j.molcel.2022.01.009 .
4. Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, Broley S, Dreyer L, Gration D, Taylor E, OSullivan M, Siafarikis A, Ravikumara M, Dawkins H, Pachter N, Baynam G . 6 . Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea . Gene . 699 . 110–114 . May 2019 . 30844479 . 7872052 . 10.1016/j.gene.2019.02.059 .
5. Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N, Fabre A, Badens C . Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects . Human Mutation . 39 . 6 . 774–789 . June 2018 . 29527791 . 10.1002/humu.23418 . 4331400 . free .