GeneID: 170
Names
| Common Name: | TMPRSS6 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 22 (NC_000022.11) | Locus: | NG_012856.2 (TMPRSS6) |
| HUGO Symbol: | TMPRSS6 | Full Name: | transmembrane protease, serine 6 |
| Exons: | 18 | Introns: | 17 |
Description:
The TMPRSS6 gene encodes matriptase-2, a member of the type II transmembrane serine protease family and an essential component of the BMP/SMAD signalling pathway that is involved in the regulation of iron metabolism. Matriptase-2 is produced primarily in the liver and to a lesser extent in the kidney and olfactory epithelium. It negatively regulates the production of hepcidin, the systemic iron-regulatory hepatic hormone. Its effect is mediated via the proteolytic processing of the BMP co-receptor hemojuvelin, which functions as the primary activator of hepcidin expression. Hepcidin mediates the degradation of the iron export molecule ferroportin, thus reducing intestinal iron absorption and iron release in the bloodstream. Iron is an important component of haemoglobin. Mutations that lead to changes in iron levels above or below the healthy limit are associated with iron overload syndromes, such as hereditary hemochromatosis, or iron deficiency anaemia, respectively.
Synonyms: FLJ30744
Comments:
N/A
Number of entries/variants: 5
Publications / Origin
- Ramsay AJ, Hooper JD, Folgueras AR, Velasco G, López-Otín C, Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis., Haematologica , 94(6), 840-9, 2009
- Wang CY, Meynard D, Lin HY, The role of TMPRSS6/matriptase-2 in iron regulation and anemia., Front Pharmacol , 5(0), 114, 2014
- Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016