Gene Symbol | TSR2 |
Entrez Gene ID | 90121 |
Full Name | TSR2, ribosome maturation factor |
Synonyms | DBA14,DT1P1A10,WGG1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3) |