RPL15
Function
Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.
Involvement in disease
Diamond-Blackfan anemia 12
DBA12
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 eukaryotic ribosomal protein eL15 family.
Cellular localization
- Cytoplasm
Alternative names
EC45, TCBAP0781, RPL15, Large ribosomal subunit protein eL15, 60S ribosomal protein L15