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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

IMD46

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurology neurodegenerative   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 blood hemoglobin   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