TSR2 gene

TSR2, ribosome maturation factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May be involved in 20S pre-rRNA processing.

From NCBI Gene:

  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

From UniProt:

Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14): A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. [MIM:300946]

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22

Molecular Location: base pairs 54,440,420 to 54,445,297 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22
  • DBA14
  • DT1P1A10
  • WGG1