Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2α)) is a protein that is encoded by the EPAS1 gene in mammals. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen … Ver mais The EPAS1 gene encodes one subunit of a transcription factor involved in the induction of genes regulated by oxygen, and which is induced as oxygen concentration falls (hypoxia). The protein contains a Ver mais A high percentage of Tibetans carry an allele of EPAS1 that improves oxygen transport. The beneficial allele is also found in the extinct Denisovan genome, suggesting that it arose in them and entered the modern human population through Ver mais • Brahimi-Horn MC, Pouysségur J (2005). "The hypoxia-inducible factor and tumor progression along the angiogenic pathway". International Review of Cytology. 242: … Ver mais Mutations in the EPAS1 gene are related to early-onset neuroendocrine tumors such as paragangliomas, somatostatinomas Ver mais EPAS1 has been shown to interact with aryl hydrocarbon receptor nuclear translocator and ARNTL. Ver mais • EPAS1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine, which is in the public domain. Ver mais WebSimilarly, functional mutations in the hypoxia-inducible transcription factor 1α (HIF-1α) gene that represents the oxygen-dependent subunit of the HIF-1 heterodimer, the latter being …
Details for apparently sporadic pheochromocytomas with mutation…
WebMutations in any of the genes in the HIF pathway could lead to changed proteins, abnormalities in the degradation of HIF-α and, ultimately, result in increased … WebDuring TSC2 mutation, there is an increase in HIF-1, which often results in a high glucose consumption rate . Furthermore, mTOR controls fatty acid oxidation and provides substrates to generate energy through the TCA cycle and oxidative phosphorylation and meet the nutritional demands of cancer cells during glucose deficiency . Another ... how to stop animal testing for speech
Three Novel EPAS1/HIF2A Somatic and Germline mutations …
Web10 de abr. de 2009 · We found that 8 tumors harboring the R132H mutation showed a statistically stronger HIF-1α signal than did 12 tumors that did not harbor this mutation . … WebDespite a general role for the HIF hydroxylase system in cellular oxygen sensing and tumour hypoxia, cancer-associated mutations of genes in this pathway, including PHD2, PHD1, EPAS1 (encoding HIF ... WebMutations in the EPAS1 gene change single protein building blocks (amino acids) in the HIF-2α protein. These changes prevent HIF-2α from interacting normally with the proteins that target it for degradation. As a result, HIF-2α is not degraded efficiently, and HIF accumulates in cells even when adequate oxygen is available. react-navigation-header-buttons