60S ribosomal protein L35
Function
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547).
Involvement in disease
Diamond-Blackfan anemia 19
DBA19
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. DBA19 inheritance is autosomal dominant.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the universal ribosomal protein uL29 family.
Cellular localization
- Cytoplasm
Alternative names
Large ribosomal subunit protein uL29, 60S ribosomal protein L35, RPL35