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Ferroportin-1, also known as solute carrier family 40 member 1 (SLC40A1) or iron-regulated transporter 1 (IREG1), is a protein that in humans is encoded by the SLC40A1 gene. [5] Ferroportin is a transmembrane protein that transports iron from the inside of a cell to the outside of the cell.
Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta.
Export occurs through ferroportin, often aided by hephaestin (Hp) and/or ceruloplasmin (Cp), and repressed by hepcidin. Human iron metabolism is the set of chemical reactions that maintain human homeostasis of iron at the systemic and cellular level.
Hepcidin is a protein that in humans is encoded by the HAMP gene. Hepcidin is a key regulator of the entry of iron into the circulation in mammals. [6]During conditions in which the hepcidin level is abnormally high, such as inflammation, serum iron falls due to iron trapping within macrophages and liver cells and decreased gut iron absorption.
In HEK 293 cells, Q248H was as predisposed to the activities of hepcidin-25 as wild type ferroportin. [27] Ferroportin Q248H also unregulated the expression of transferrin receptor-1 in the same way as wild type. This indicates the ferroportin Q248H is associated with mild clinical phenotype or causes iron disorder in the presence of other factors.
Immunofluorescence pattern of SS-A and SS-B antibodies. Produced using serum from a patient on HEp-20-10 cells with a FITC conjugate. Anti-SSA autoantibodies (anti–Sjögren's-syndrome-related antigen A autoantibodies, also called anti-Ro, or similar names including anti-SSA/Ro, anti-Ro/SSA, anti–SS-A/Ro, and anti-Ro/SS-A) are a type of anti-nuclear autoantibodies that are associated with ...
22042 Ensembl ENSG00000072274 ENSMUSG00000022797 UniProt P02786 Q62351 RefSeq (mRNA) NM_001313965 NM_001313966 NM_001128148 NM_003234 NM_011638 NM_001357298 RefSeq (protein) NP_001121620 NP_001300894 NP_001300895 NP_003225 NP_035768 NP_001344227 Location (UCSC) Chr 3: 196.03 – 196.08 Mb Chr 16: 32.43 – 32.45 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transferrin receptor ...
Anti-mitochondrial antibodies (AMA) are autoantibodies, consisting of immunoglobulins formed against mitochondria, [1] primarily the mitochondria in cells of the liver.. The presence of AMA in the blood or serum of a person may be indicative of the presence of, or the potential to develop, the autoimmune disease primary biliary cholangitis (PBC; previously known as primary biliary cirrhosis).