Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

@article{Ramsay2009Matriptase2MI,
  title={Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.},
  author={Andrew J. Ramsay and V{\'i}ctor Quesada and Mayka Sanchez and Cecilia Garabaya and Mar{\'i}a Pilar Sard{\`a} and Montserrat Baiget and Angel Francisco Remacha and Gloria Velasco and Carlos L{\'o}pez-Ot{\'i}n},
  journal={Human molecular genetics},
  year={2009},
  volume={18 19},
  pages={3673-83}
}
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two novel heterozygous mutations within the matriptase-2 (TMPRSS6) gene of monozygotic twin girls exhibiting an IRIDA phenotype. The first is the frameshift mutation (P686fs) caused by the insertion of the four nucleotides CCCC in exon 16 (2172_2173insCCCC) that is predicted to terminate translation… CONTINUE READING
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