TSR2 (gene)
TSR2 ribosome maturation factor is a protein that in humans is encoded by the TSR2 gene. [5]
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| Aliases | TSR2, DT1P1A10, WGG1, DBA14, ribosome maturation factor, TSR2 ribosome maturation factor | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300945 MGI: 1916749 HomoloGene: 43235 GeneCards: TSR2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016].
References
- GRCh38: Ensembl release 89: ENSG00000158526 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000025264 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: TSR2 ribosome maturation factor". Retrieved 2020-04-12.
Further reading
- He H, Zhu D, Sun J, Pei R, Jia S (2011). "The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis". Mol. Biol. (Mosk.). 45 (3): 496–502. doi:10.1134/S0026893311020099. PMID 21790011. S2CID 34475182.
- Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K (September 2014). "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28". Am. J. Med. Genet. A. 164A (9): 2240–9. doi:10.1002/ajmg.a.36633. PMC 4149220. PMID 24942156.
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