TSR2 (gene) explained

TSR2 ribosome maturation factor is a protein that in humans is encoded by the TSR2 gene.^[1]

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].

Further reading

• He H, Zhu D, Sun J, Pei R, Jia S . The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis . Mol. Biol. (Mosk.) . 45 . 3 . 496–502 . 2011 . 10.1134/S0026893311020099 . 21790011 . 34475182 .
• Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K . 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 . September 2014 . 24942156 . 4149220 . 10.1002/ajmg.a.36633 .

Notes and References

1. Web site: Entrez Gene: TSR2 ribosome maturation factor. 2020-04-12.