Synthetic peptide directed towards the N terminal region of human GJB2
Azioni biochim/fisiol
GJB2 also known as connexin 26 is a gap junction protein that belongs to the connexin family. It is a component of the gap junctions between cells that facilitate the diffusion of low molecular weight materials and ions from cell to cell. Mutations in GJB2 gene is one of the major factors the causes hereditary hearing loss and lethal form of Keratitis-Ichthyosis-Deafness Syndrome.
Sequenza
Synthetic peptide located within the following region: STPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWW
Stato fisico
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Esclusione di responsabilità
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a high degree
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.
Biochimica et biophysica acta, 1818(8), 2030-2047 (2011-08-30)
CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and discuss their proposed physiologic roles. Of the 21 members of the human connexin family, mutations in
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