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MGP002724

UniProt Annotations

Entry Information
Gene Nameribosomal protein S26
Protein EntryRS26_HUMAN
UniProt IDP62854
SpeciesHuman
Comments
Comment typeDescription
DiseaseDiamond-Blackfan anemia 10 (DBA10) [MIM:613309]: 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. {ECO:0000269|PubMed:20116044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionQ969E8:TSR2; NbExp=3; IntAct=EBI-353438, EBI-746981;
SimilarityBelongs to the ribosomal protein S26e family. {ECO:0000305}.
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