HFE2

(redirected from HJV)
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HFE2

Abbreviation for hemochromatosis type 2.
Farlex Partner Medical Dictionary © Farlex 2012

HFE2

A gene on chromosome 1q21.1 that encodes a protein which may be involved in iron metabolism, by activating the hepcidin signalling pathway, modulating hepcidin expression or acting as the hepcidin cell receptor.

Molecular pathology
HFE2 mutations are linked to hemochromatosis type 2A—e.g., juvenile hemochromatosis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Hepcidin synthesis is directed by numerous elements apart from inflammation, including iron stores, hypoxia and erythropoiesis, and hepcidin release into the peripheral circulation is regulated by other proteins, including HJV, hereditary haemochromatosis protein, transferrin receptor 2, matriptase-2 and neogenin.39,40 Pathologic modifications of hepcidin regulation are dominant in many disorders of iron metabolism, together with iron-loading anaemia, hereditary haemochromatosis, and anaemia of inflammation.2
Hjv gene expression showed downregulation at all-time points with 0.21 [+ or -] 0.002 fold decreases at 12 h time point compared to control.
Obcan jako clen HJV uplat?uje sve pravo dobrovolne a bezplatne se podilet na obrane sve zeme a jejich demokratickych hodnot.
La HJV es una proteina de membrana producida principalmente en el higado y, en una menor proporcion, en el musculo esqueletico y cardiaco [5,14].
Hemojuvelin is a protein encoded by a gene initially named HFE2 but later designated HJV because it is not a member of the HFE family but instead is related to the repulsive guidance molecule family of proteins.
Hepcidin gene expression is in part regulated by four genes, viz., hemojuvelin (HJV), TFR2 and HFE, an atypical major histocompatability complex proteins, and the molecular mechanisms of these interactions are discussed in detail later.
To rule out infection with Eastern equine encephalitis virus (EEEV) and Highlands J viruses (HJV), related alphaviruses also enzootic to Florida, all EVEV-seropositive sera were screened by PRNT for antibody to these viruses by using the North American EEEV strain FL-93 (21) and HJV strain 86-31227 (22).
Although mutations in the HFE gene are the principal cause of HH, mutations in other genes--including HJV (juvenile hemochromatosis) (human chromosome 1 band region q21); HAMP (hepatic antimicrobial peptide) (19q13.1); TfR2 (transferin receptor 2 gene) (7q22), and SLC40A [solute carrier family 40 (iron-regulated transporter)] (2q32)--also have the potential to affect iron homeostasis by altering levels of various proteins essential for regulation of the body's iron balance.
The bad news is that the other half of the difference in growth projections will be due to a rise in deaths, the majority stemming from higher levels of HJV prevalence.
The ninth annual National HJV Testing Day, sponsored by the National Association of People with AIDS, is June 27, 2003.
For 13 years the Clinical Care Options for HJV Symposium has brought together about 300 frontline HIV doctors for an annual meeting on treating HIV.