TSR2 Chromosome X
TSR2 ribosome maturation factor
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What This Gene Does
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]
Gene Info
Gene Group
Ribosomal biogenesis factors
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000158526
Associated Conditions (2)
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786203996 | Health Risk | Pathogenic | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |