| 1345296 | HFE | homeostatic iron regulator | The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022] | 6 | 26087429 | 26098343 | Human | 476 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 36947460 | HFE-AS1 | HFE antisense RNA 1 | ASSOCIATED WITH cardiomyopathy | 6 | 26086290 | 26091034 | Human | 1 | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 732498 | FTH1 | ferritin heavy chain 1 | This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different ti ssues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] | 11 | 61964285 | 61967634 | Human | 595 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1320952 | HJV | hemojuvelin BMP co-receptor | The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015] | 1 | 146017470 | 146021735 | Human | 222 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733072 | SLC40A1 | solute carrier family 40 member 1 | The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] | 2 | 189560590 | 189580786 | Human | 479 | description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1320887 | TFR2 | transferrin receptor 2 | This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene ha ve been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] | 7 | 100620420 | 100641552 | Human | 287 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736414 | HAMP | hepcidin antimicrobial peptide | The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and the se active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014] | 19 | 35282528 | 35285143 | Human | 483 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 732679 | FEN1 | flap structure-specific endonuclease 1 | The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of th e proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008] | 11 | 61792911 | 61797238 | Human | 292 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 737169 | PPM1F | protein phosphatase, Mg2+/Mn2+ dependent 1F | The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p 21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] | 22 | 21919425 | 21952848 | Human | 124 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
