TF Gene (Transferrin): Function, Regulation, and Clinical Significance

The TF gene encodes transferrin, a glycoprotein responsible for iron transport in the blood. Transferrin binds ferric iron (Fe3+) with high affinity and delivers it to cells via the transferrin receptor (TFRC). It plays a critical role in iron homeostasis, erythropoiesis, and cellular iron uptake. The protein is primarily synthesized in the liver and secreted into plasma. Mutations in TF can lead to atransferrinemia, a rare autosomal recessive disorder characterized by iron overload in tissues and hypochromic anemia. Additionally, transferrin levels are used clinically as a marker for nutritional status and iron metabolism.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Iron metabolism

• Transferrin endocytosis and recycling

• Hepcidin-ferroportin regulation

Transferrin is a 79 kDa glycoprotein with two homologous lobes (N- and C-lobe), each capable of binding one ferric ion. It undergoes conformational changes upon iron binding and release, facilitating iron delivery via transferrin receptor-mediated endocytosis. The protein is essential for iron transport and is involved in cellular proliferation, differentiation, and immune responses. Post-translational modifications include glycosylation, which affects stability and function.