A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

  title={A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.},
  author={Melanie Joan Percy and Paul W. Furlow and Guy S. Lucas and Xiping Li and Terence R. J. Lappin and Mary Frances McMullin and Frank C. Lee},
  journal={The New England journal of medicine},
  volume={358 2},
Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF… CONTINUE READING

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