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UniProt functional annotation for P62244 | ||
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| UniProt code: P62244. |
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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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| Function: | |
Structural component of the ribosome (PubMed:23636399). Required for proper erythropoiesis (PubMed:27909223). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:27909223}. |
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| Subunit: | |
Component of the 40S ribosomal subunit. {ECO:0000269|PubMed:23636399}. |
| Disease: | |
Diamond-Blackfan anemia 20 (DBA20) [MIM:618313]: 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. DBA20 inheritance is autosomal dominant. {ECO:0000269|PubMed:27909223}. Note=The disease may be caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the universal ribosomal protein uS8 family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=CAA44568.1; Type=Frameshift; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.