Aliases for TMPRSS6 Gene
External Ids for TMPRSS6 Gene
Previous GeneCards Identifiers for TMPRSS6 Gene
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for TMPRSS6 Gene
TMPRSS6 (Transmembrane Protease, Serine 6) is a Protein Coding gene. Diseases associated with TMPRSS6 include Iron-Refractory Iron Deficiency Anemia and Microcytic Anemia. Among its related pathways are Hfe effect on hepcidin production and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ST14.
UniProtKB/Swiss-Prot for TMPRSS6 Gene
Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HFE2, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.