Heritable disorders of oxygen sensing

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.

Automated summary

Hypoxia-inducible factors (HIFs) activate gene transcription in response to low oxygen levels, playing critical roles in development, physiology, and disease pathogenesis. Mutations causing dysregulated HIF activity are responsible for tumor susceptibility in von Hippel-Lindau syndrome and excessive red blood cell production in hereditary erythrocytosis.