GJB2
- 2 independent labs in 2 countries
- Funders: Medical Research Council and 3 more
- Humans1
- Animals1
Effects
2ATP
downin mice1
1 study
ATP
downin mice1
GJB2 decreases ATP in mice.
Animalsin posterior chemosensory areabrainstem
bioRxiv21 Sep 2026Preprint
Elevated tidal volume responses
downin mice1−40% reduction
1 study
Elevated tidal volume responses
downin mice1−40% reduction
GJB2 decreases elevated tidal volume responses in mice (40% reduction).
Animalsin middle agebrainstem
bioRxiv21 Sep 2026Preprint
Associations
1Hereditary hearing loss variant homozygote frequency
upin humans1
1 study
Hereditary hearing loss variant homozygote frequency
upin humans1
GJB2 is associated with hereditary hearing loss variant homozygote frequency in humans (0.69% and 1.01%).
Humansin Taiwanese cohorts (TWB and NHRI)
Genetics in medicine open6 Jun 2026
Latest
2 in 12 monthsGenetics in Medicine Open
Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations
Cohort study of 2,473 peopleBiomarkers