EPAS1

Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2alpha)) is a protein that in humans is encoded by the EPAS1 gene. It is a type of hypoxia-inducible factor, a group of transcription factors involved in body response to oxygen level. The gene is active under low oxygen condition called hypoxia. It is also important in the development of the heart, and maintaining catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors.

However, a special version (allele) of EPAS1 produces EPAS1 which is responsible for high-altitude adaptation in humans. It is known that the variant gene confers increased athletic performance in some people, and hence it is dubbed the "super athlete gene".

Function

The EPAS1 gene encodes half of a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall (hypoxia). The encoded protein contains a basic helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. EPAS 1 is involved in the development of the embryonic heart and is expressed in the endothelial cells that line the walls of the blood vessels in the umbilical cord. It is essential in maintaining catecholamine homeostasis and protection against heart failure during early embryonic development.