GJB2

  • 2 independent labs in 2 countries
  • Funders: Medical Research Council and 3 more
  • Humans1
  • Animals1

Effects

2

ATP

downin mice1

1 study
  1. GJB2 decreases ATP in mice.

    Animalsin posterior chemosensory areabrainstem

    A discrete Connexin26+ neural crest lineage emerges in mid-life and mediates enhanced central brainstem responses to elevated CO2 levels for deep breathing

    bioRxiv21 Sep 2026Preprint

More on ATP

Elevated tidal volume responses

downin mice1−40% reduction

1 study
  1. GJB2 decreases elevated tidal volume responses in mice (40% reduction).

    Animalsin middle agebrainstem

    A discrete Connexin26+ neural crest lineage emerges in mid-life and mediates enhanced central brainstem responses to elevated CO2 levels for deep breathing

    bioRxiv21 Sep 2026Preprint

Associations

1

Hereditary hearing loss variant homozygote frequency

upin humans1

1 study
  1. GJB2 is associated with hereditary hearing loss variant homozygote frequency in humans (0.69% and 1.01%).

    Humansin Taiwanese cohorts (TWB and NHRI)

    Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations

    Genetics in medicine open6 Jun 2026

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