title: Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
abstract: Mutations in hemojuvelin (HJV) are the most common cause of the juvenile-onset form of the iron overload disorder hereditary hemochromatosis. The discovery that HJV functions as a co-receptor for the bone morphogenetic protein (BMP) family of signaling molecules helped to identify this signaling pathway as a central regulator of the key iron hormone hepcidin in the control of systemic iron homeostasis. This review highlights recent work uncovering the mechanism of action of HJV and the BMP-SMAD signaling pathway in regulating hepcidin expression in the liver, as well as additional studies investigating possible extra-hepatic functions of HJV. This review also explores the interaction between HJV, the BMP-SMAD signaling pathway and other regulators of hepcidin expression in systemic iron balance.
authors.affiliation: Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Program in Anemia Signaling Research Boston, MA, USA.
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Core
authors.affiliation: Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Program in Anemia Signaling Research Boston, MA, USA.
authors.forename: Susanna
authors.initials: S
authors.lastname: Canali
authors.affiliation: Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Program in Anemia Signaling Research Boston, MA, USA.
authors.forename: Jodie L
authors.initials: JL
authors.lastname: Babitt
keywords: bone morphogenetic protein; hemochromatosis; hemojuvelin; hepcidin; iron; repulsive guidance molecule