egl-9 family hypoxia inducible factor 1

Normal function

The EGLN1 gene, often known as PHD2, provides instructions for making an enzyme called prolyl hydroxylase domain 2 (PHD2). The PHD2 enzyme interacts with a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is one part (subunit) of a larger HIF protein complex that plays a critical role in the body's ability to adapt to changing oxygen levels. HIF controls several important genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. It is the major regulator of a hormone called erythropoietin, which controls red blood cell production.

The PHD2 enzyme's primary job is to target HIF-2α to be broken down (degraded) so it does not build up when it is not needed. When enough oxygen is available, the PHD2 enzyme is highly active to stimulate the breakdown of HIF-2α. However, when oxygen levels are lower than normal (hypoxia), the PHD2 enzyme becomes less active. As a result, HIF-2α is degraded more slowly, leaving more HIF available to stimulate the formation of new blood vessels and red blood cells. These activities help maximize the amount of oxygen that can be delivered to the body's organs and tissues.

Studies suggest that the EGLN1 gene is involved in the body's adaptation to high altitude. At higher altitudes, such as in mountainous regions, air pressure is lower and less oxygen enters the body through the lungs. Over time, the body compensates for the lower oxygen levels by changing breathing patterns and producing more red blood cells and blood vessels.

Researchers suspect that the EGLN1 gene may also act as a tumour suppressor gene because of its role in regulating cell division and other processes through its interaction with HIF. Tumour suppressors prevent cells from growing and dividing too fast or in an uncontrolled way, which could lead to the development of a tumour.

Conditions referring to this gene or chromosome

• Familial erythrocytosis

Other names

ECYT3

egl nine homolog 1

egl nine homolog 1 (C. elegans)

egl nine-like protein 1

egl-9 family hypoxia-inducible factor 1

EGLN1_HUMAN

HIF prolyl hydroxylase 2

HIF-PH2

HIF-prolyl hydroxylase 2

HIFPH2

HPH-2

HPH2

hypoxia-inducible factor prolyl hydroxylase 2

PHD2

prolyl hydroxylase domain-containing protein 2

zinc finger MYND domain-containing protein 6

ZMYND6