Transmembrane protease serine 6

Definition:

Membrane-bound serine protease. Through the cleavage of cell surface HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.

References:

[1]. Karin E Finberg, et al. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May;40(5):569-71. [Content Brief]

[2]. Laura Silvestri, et al. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab. 2008 Dec;8(6):502-11. [Content Brief]

[3]. Luigia De Falco, et al. Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. Hum Mutat. 2014 Nov;35(11):1321-9. [Content Brief]

[4]. Cameron J McDonald, et al. Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. Am J Physiol Cell Physiol. 2015 Apr 1;308(7):C539-47. [Content Brief]

[5]. Marit Stirnberg, et al. Proteolytic processing of the serine protease matriptase-2: identification of the cleavage sites required for its autocatalytic release from the cell surface. Biochem J. 2010 Aug 15;430(1):87-95. [Content Brief]

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