Scientific background: |
Connexin26(CX26), also known as GAP junction protein, beta2, GJB2. Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The 3-prime untranslated region of the CX26 transcript contains a putative mRNA instability sequence. The deduced 226-amino acid protein has a calculated molecular mass of about 26 kD. CX26 shares 92.5% identity with rat Cx26. connexin 26 (GJB2) is assigned to human chromosome 13q11-q12 .Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-G mitochondrial mutation. |
References: |
1. Mignon, C.; Fromaget, C.; Mattei, M.-G.; Gros, D.; Yamasaki, H.; Mesnil, M. : Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet. Cell Genet. 72: 185-186, 1996. PubMed ID : 8978770
2. Djalilian, A. R.; McGaughey, D.; Patel, S.; Seo, E. Y.; Yang, C.; Cheng, J.; Tomic, M.; Sinha, S.; Ishida-Yamamoto, A.; Segre, J. A. : Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. J. Clin. Invest. 116: 1243-1253, 2006.
3. Abe, S.; Kelley, P. M.; Kimberling, W. J.; Usami, S. : Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-G mitochondrial mutation. Am. J. Med. Genet. 103: 334-338, 2001. |