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UniProt functional annotation for P08708 | ||
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| UniProt code: P08708. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Disease: | |
Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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 developing leukemia. 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:17647292, ECO:0000269|PubMed:19061985}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the eukaryotic ribosomal protein eS17 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.