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FLASH GENE
Symbol TFRC contributors: mct/npt/pgu - updated : 10-09-2017
HGNC name transferrin receptor (p90, CD71)
HGNC id 11763
ASSOCIATED DISORDERS
corresponding disease(s) IMD46
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
in hepatoma cells due to a combination of iron deficiency and chemical hypoxia
tumoral     --over  
highly expressed in glioblastomas and associated with shorter survival (
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • it can be reliably used as an independent erythroid marker for immunohistochemical analysis of the marrow
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    drugs that increase TFRC palmitoylation, are possible therapeutic approaches in the treatment of NBIA and also in more common neurodegenerative disorders, including Parkinson disease, where brain iron accumulation is also reported
    bloodhemoglobin 
    erythroid-progenitor-targeted gene therapy using bifunctional TFRC Ligand-Peptides in erythropoietic protoporphyria
    ANIMAL & CELL MODELS
  • mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy