GJB2 - Gene Detail
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| Gene Symbol | GJB2 | ||||||||||||
| Synonyms | BAPS | CX26 | DFNA3 | DFNA3A | DFNB1 | DFNB1A | HID | KID | NSRD1 | PPK | ||||||||||||
| Gene Description | GJB2, gap junction protein beta 2, encodes a component of the gap junction channel (PMID: 19340074) that facilitates the exchange of ions and biological molecules between cells and the environment (PMID: 36187349, PMID: 23048025, PMID: 9508777), playing an essential role in hearing function and epithelial development (PMID: 36187349, PMID: 37106706, PMID: 11912510). GJB2 mutations have been identified in esophageal squamous cell cancer (PMID: 33889545), prostate cancer (PMID: 35734583), and aberrant expression of GJB2 has been reported in multiple tumor types (PMID: 37427102), including bladder cancer (PMID: 12576868). | ||||||||||||
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