Hypoxia-inducible factor (HIF) a, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-a 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-2a protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2a protein and suggest that wild-type HIF-2a regulates erythropoietin production in adults.
Bibliographical note2008 Massachusetts Medical Society
ASJC Scopus subject areas
Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T., McMullin, M., & Lee, F. S. (2008). A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. New England Journal of Medicine, 358(2), 162-168. https://doi.org/10.1056/NEJMoa073123