40S ribosomal protein S26

Function

Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688).

Involvement in disease

Diamond-Blackfan anemia 10

DBA10

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 eS26 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

Small ribosomal subunit protein eS26, 40S ribosomal protein S26, RPS26

Database links

swissprot:P62854 entrezGene:6231 entrezGene:101929876 omim:603701