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Heritable disorders of oxygen sensing
Author(s) -
Semenza Gregg L.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62521
Subject(s) - pathogenesis , transcription factor , biology , gene , genetics , hypoxia (environmental) , transcription (linguistics) , disease , hypoxia inducible factors , genetic predisposition , cancer research , endocrinology , medicine , immunology , oxygen , chemistry , linguistics , philosophy , organic chemistry
Hypoxia‐inducible factors (HIFs) activate gene transcription in response to reduced O 2 availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel–Lindau syndrome and excess red blood cell production in hereditary erythrocytosis.