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MGP002670

UniProt Annotations

Entry Information
Gene Nameribosomal protein L26
Protein EntryRL26_HUMAN
UniProt IDP61254
SpeciesHuman
Comments
Comment typeDescription
DiseaseDiamond-Blackfan anemia 11 (DBA11) [MIM:614900]: 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:22431104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionQ9NY93:DDX56; NbExp=1; IntAct=EBI-352405, EBI-372376; O15479:MAGEB2; NbExp=1; IntAct=EBI-352405, EBI-1057615; O43586:PSTPIP1; NbExp=1; IntAct=EBI-352405, EBI-1050964;
SimilarityBelongs to the ribosomal protein L24P family. {ECO:0000305}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RPL26ID47470ch17p13.html";
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