RPL18
Function
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547).
Involvement in disease
Diamond-Blackfan anemia 18
DBA18
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. DBA18 inheritance is autosomal dominant.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the eukaryotic ribosomal protein eL18 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 eL18, 60S ribosomal protein L18, RPL18