RPL27
Function
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902).
Involvement in disease
Diamond-Blackfan anemia 16
DBA16
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 eL27 family.
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
- Rough endoplasmic reticulum
- Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity).
Alternative names
Large ribosomal subunit protein eL27, 60S ribosomal protein L27, RPL27