TSR2

May be involved in 20S pre-rRNA processing.

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.

Belongs to the TSR2 family.

Pre-rRNA-processing protein TSR2 homolog, TSR2

• entrezGene:90121
• swissprot:Q969E8

Proteins

20894Da