| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 2706 |
Name | GJB2 |
Synonymous | CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK;gap junction protein, beta 2, 26kDa;GJB2;gap junction protein, beta 2, 26kDa |
Definition | connexin 26|gap junction beta-2 protein |
Position | 13q11-q12 |
Gene type | protein-coding |
Cancer type | Abstract |
| oral squamous cell Carcinoma ;Dermatological | pediatric oral squamous cell carcinoma is an extremely rare occurence. In our report, we describe a 6-year-old White female with sensorineural hearing loss found to have a Connexin 26 gene mutation who developed a well-differentiated squamous cell carcinoma of the hard palate with metastatic disease to submandibular lymph nodes and the lungs. This association emphasizes the need toconsider Connexin 26 gene mutations in children who develop oral squamous cell carcinoma and to monitor for oral squamous cell carcinoma in children with Connexin 26 gene mutations. |