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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.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2034 )〕 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, 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.〔 Catecholamines include epinephrine and norepinephrine. It is important for the production of catecholamines to remain in homeostatic conditions so that both the delicate fetal heart and the adult heart do not overexert themselves and induce heart failure. Catecholamine production in the embryo is related to control of cardiac output by increasing the fetal heart rate.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「EPAS1」の詳細全文を読む
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