Biology:TTC37
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[2] TTC37 contains six tetratricopeptide repeat domains.[2]
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.[1]
Clinical significance
Mutation in the TTC37 gene are associated with tricho-hepato-enteric syndrome.[4][5]
References
- ↑ 1.0 1.1 "HUGO Gene Nomenclature Committee, HGNC:23639" (in en). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:23639.
- ↑ 2.0 2.1 2.2 "UniProt, Q6PGP7" (in en). http://www.uniprot.org/uniprot/Q6PGP7#sequences.
- ↑ "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. doi:10.1016/j.molcel.2022.01.009. PMID 35120588.
- ↑ "Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea". Gene 699: 110–114. May 2019. doi:10.1016/j.gene.2019.02.059. PMID 30844479.
- ↑ "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. doi:10.1002/humu.23418. PMID 29527791.
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