Catalogue number: | PA2144 |
Price: | $200.00 |
Reactivities: | Human |
Applications: | Immunocytochemistry, Immunohistochemistry, Western Blot |
Size: | 100ug/vial |
Gene: | GJA3 |
Swiss prot: | Q9Y6H8 |
Form: | Lyophilized |
Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
Storage temp: | At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time.Avoid repeated freezing and thawing. |
Scientific background: | Gap junction alpha-3 protein, also known as Connexin-46, is a protein that in humans is encoded by the GJA3 gene. This gene is mapped to 13q12.11. The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). |
References: | 1. Burdon, K. P., Wirth, M. G., Mackey, D. A., Russell-Eggitt, I. M., Craig, J. E., Elder, J. E., Dickinson, J. L., Sale, M. M. A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J. Med. Genet. 41: e106, 2004. Note: Electronic Article. Errata: J. Med. Genet. 42: 288 only, 2004; J. Med. Genet. 45: 256 only, 2008. 2. Chang, B., Wang, X., Hawes, N. L., Ojakian, R., Davisson, M. T., Lo, W.-K., Gong, X. A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum. Molec. Genet. 11: 507-513, 2002. 3. White, T. W. Unique and redundant connexin contributions to lens development.Science 295: 319-320, 2002. |
Additional info: | A synthetic peptide corresponding to a sequence at the C-terminal of human GJA3. |