What is the TFRC gene?
What is the TFRC gene?
TFRC (Transferrin Receptor) is a Protein Coding gene. Diseases associated with TFRC include Immunodeficiency 46 and Combined Immunodeficiency. Among its related pathways are AMPK Enzyme Complex Pathway and Clathrin derived vesicle budding.
Is hemochromatosis recessive or dominant?
Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition.
How common is hemochromatosis in the world?
The worldwide frequency of the C282Y is about 1.9% and that of the H63D mutation is about 8.1%. Hemochromatosis has the same prevalence in Europe, Australia, and other Western countries, with the highest prevalence being noted in people of Celtic origin. Hemochromatosis is less common among patients of African descent.
What gene is mutated in hemochromatosis?
Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
What is Tfr1?
Transferrin receptor 1 (Tfr1) mediates uptake of circulating transferrin-bound iron to developing erythroid cells and other cell types. Its critical physiological function is highlighted by the embryonic lethal phenotype of Tfr1-knockout (Tfrc−/−) mice and the pathologies of several tissue-specific knockouts.
What is the function of the TFR2 gene?
The TFR2 gene provides instructions for making a protein called transferrin receptor 2. The main function of this protein is to help iron enter liver cells (hepatocytes). On the surface of hepatocytes, the receptor binds to a protein called transferrin, which transports iron through the blood to tissues throughout the body.
Is TFR2 mutated in haemochromatosis?
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000 May;25 (1):14-5. Citation on PubMed
What is the function of transferrin receptor 2?
The main function of this protein is to help iron enter liver cells (hepatocytes). On the surface of hepatocytes, the receptor binds to a protein called transferrin, which transports iron through the blood to tissues throughout the body. When transferrin binds to transferrin receptor 2, iron is allowed to enter the cell.
