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Target intelligence / Profile preview
Gap junction protein beta-2 (GJB2)
- Target
- GJB2
- Molecular classification
- Connexin family, Gap junction protein
01
Overview
Gap junction protein beta-2 (GJB2) is a member of the connexin family that forms gap junctions, enabling direct communication between adjacent cells. GJB2 is crucial for maintaining potassium ion levels and the function of cochlear cells in the inner ear, and it is also important for skin integrity. Mutations in GJB2 are a leading cause of non-syndromic autosomal recessive congenital hearing loss.
- Other names
- Connexin 26 (Cx26)CXB2_HUMANDFNA3DFNB1gap junction protein, beta 2, 26kDaNSRD1
02
Mechanism of action
Forms intercellular channels allowing rapid exchange and homeostatic regulation via movement of ions and small molecules directly between cytoplasms.
03
Biological functions
Intercellular communicationIon transportHomeostatic regulationAuditory transductionEpidermal maintenance
04
Disease associations
Non-syndromic sensorineural deafnessSkin disorders
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