5qr9
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PanDDA analysis group deposition -- Crystal Structure of human ALAS2A in complex with Z31478129
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Structural highlights
DiseaseHEM0_HUMAN X-linked sideroblastic anemia;Erythropoietic protoporphyria. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041).[1] FunctionReferences
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This page was last modified 11:25, 21 February 2024.