RPL26

Function

Component of the large ribosomal subunit (PubMed:23636399, PubMed:26100019, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:26100019, PubMed:32669547).

Involvement in disease

Diamond-Blackfan anemia 11

DBA11

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.

Post-translational modifications

Ufmylated by UFL1 in response to endoplasmic reticulum stress, promoting reticulophagy of endoplasmic reticulum sheets.

Sequence Similarities

Belongs to the universal ribosomal protein uL24 family.

Cellular localization

• Cytoplasm

Alternative names

Large ribosomal subunit protein uL24, 60S ribosomal protein L26, RPL26

Database links

swissprot:P61254 entrezGene:6154 genbank:NP_000978.1 omim:603704