STEAP3, STEAP3 metalloreductase, 55240

N. diseases: 48; N. variants: 2
Disease: Anemia, severe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		0.010 AlteredExpression disease BEFREE We show that STEAP3, a metalloreductase expressed in erythroblasts, associates with TfR1 and partially rescues transferrin uptake in patient-derived fibroblasts, suggesting that STEAP3 may provide an accessory TfR1 endocytosis signal that spares patients from severe anemia. 26642240 2016