Table of Contents
What is the function of transferrin receptor 2?
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).
What proteins interact with transferrin receptors?
HFE
The transferrin receptor (TfR) interacts with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis.
Is transferrin receptor a protein?
Transferrin receptor (TfR) is a carrier protein for transferrin. It is needed for the import of iron into the cell and is regulated in response to intracellular iron concentration. It imports iron by internalizing the transferrin-iron complex through receptor-mediated endocytosis.
What is the function of transferrin receptor?
The transferrin receptor is a membrane glycoprotein whose only clearly defined function is to mediate cellular uptake of iron from a plasma glycoprotein, transferrin.
What is hereditary hemochromatosis?
Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis and treatment is critical to prevent complications from the disorder. If you have a family health history of hemochromatosis, talk to your doctor about testing for hereditary hemochromatosis.
What protein is affected in hemochromatosis?
Abstract. Hereditary hemochromatosis (HH) is a disorder of iron metabolism caused by common mutations in the gene HFE. The HFE protein binds to transferrin receptor-1 (TfR1) in competition with transferrin, and in vitro, reduces cellular iron by reducing iron uptake.
What protein does hemochromatosis code for?
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin.
What tests confirm hemochromatosis?
Doctors usually order blood tests to check for the gene mutations link that cause hemochromatosis. Finding two copies of the HFE link gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis. Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis.
What can hemochromatosis be mistaken for?
Sometimes people with hemochromatosis are misdiagnosed as having other disorders, including arthritis, diabetes, heart problems, liver/gallbladder disease, or various stomach disorders.
What does HFE protein do?
The HFE protein regulates the production of a protein called hepcidin. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body.
How is hemochromatosis diagnosed?
How does a receptor protein respond to a hormone molecule?
When a hormone enters a cell and binds to its receptor, it causes the receptor to change shape, allowing the receptor-hormone complex to enter the nucleus (if it wasn’t there already) and regulate gene activity. Hormone binding exposes regions of the receptor that have DNA-binding activity, meaning they can attach to specific sequences of DNA.
What is the difference between ferritin and transferrin?
serum iron- measures iron levels in serum; represents iron that is almost completely bound to transferrin;
What is the job of the receptor proteins?
Receptors are proteins or glycoprotein that bind signaling molecules known as first messengers, or ligands. They can initiate a signaling cascade, or chemical response, that induces cell growth, division, and death or opens membrane channels.
Is a receptor protein a transport protein?
Transport proteins or transporter are integral membrane proteins that help other substances to diffuse in and out of the cell. They are similar to cell receptors in some ways. Both are transmembrane proteins that transport signals from outside the cell to the inside. Transport proteins generally perform two main types of transport in cells: