The G277S mutation in transferrin does not disturb function. 2003

Philip Aisen

UI MeSH Term Description Entries
D007501 Iron A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN. Iron-56,Iron 56
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001665 Binding Sites The parts of a macromolecule that directly participate in its specific combination with another molecule. Combining Site,Binding Site,Combining Sites,Site, Binding,Site, Combining,Sites, Binding,Sites, Combining
D014168 Transferrin An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states. Siderophilin,Isotransferrin,Monoferric Transferrins,Serotransferrin,Transferrin B,Transferrin C,beta 2-Transferrin,beta-1 Metal-Binding Globulin,tau-Transferrin,Globulin, beta-1 Metal-Binding,Metal-Binding Globulin, beta-1,Transferrins, Monoferric,beta 1 Metal Binding Globulin,beta 2 Transferrin,tau Transferrin
D018798 Anemia, Iron-Deficiency Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased. Iron-Deficiency Anemia,Anemias, Iron-Deficiency,Iron-Deficiency Anemias,Anemia, Iron Deficiency,Anemias, Iron Deficiency,Iron Deficiency Anemia,Iron Deficiency Anemias
D020014 K562 Cells An ERYTHROLEUKEMIA cell line derived from a CHRONIC MYELOID LEUKEMIA patient in BLAST CRISIS. Cells, K562

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