TSR2
Function
May be involved in 20S pre-rRNA processing.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TSR2 family.
Alternative names
Pre-rRNA-processing protein TSR2 homolog, TSR2