[HTML][HTML] A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

MJ Percy, PW Furlow, GS Lucas, X Li… - … England Journal of …, 2008 - Mass Medical Soc
MJ Percy, PW Furlow, GS Lucas, X Li, TRJ Lappin, MF McMullin, FS Lee
New England Journal of Medicine, 2008Mass Medical Soc
Hypoxia-inducible factor (HIF) α, which has three isoforms, is central to the continuous
balancing of the supply and demand of oxygen throughout the body. HIF-α 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-2α protein. Our functional studies indicate that this
mutation leads to stabilization of the HIF-2α protein and suggest that wild-type HIF-2α …
Hypoxia-inducible factor (HIF) α, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-α 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-2α protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2α protein and suggest that wild-type HIF-2α regulates erythropoietin production in adults.
The New England Journal Of Medicine