Disease-gene associations mined from literature

Literature on TFRC

TFRC [ENSP00000353224]

Transferrin receptor protein 1; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake; Belongs to the peptidase M28 family. M28B subfamily.

Synonyms:  TFRC,  F5H6B1,  F8WBE5,  G3V0E5,  H7C3V5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM