AV36608
Anti-GJB2 antibody produced in rabbit
IgG fraction of antiserum
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All Photos(2)
Synonym(s):
Anti-Gap junction protein, β 2, 26 kDa
UNSPSC Code:
12352203
NACRES:
NA.41
Recommended Products
biological source
rabbit
Quality Level
conjugate
unconjugated
antibody form
IgG fraction of antiserum
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
mol wt
25 kDa
species reactivity
dog, horse, human
concentration
0.5 mg - 1 mg/mL
technique(s)
western blot: suitable
NCBI accession no.
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... GJB2(2706)
Immunogen
Synthetic peptide directed towards the N terminal region of human GJB2
Biochem/physiol Actions
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.
Sequence
Synthetic peptide located within the following region: STPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWW
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Disclaimer
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.
WGK
WGK 1
Flash Point(F)
Not applicable
Flash Point(C)
Not applicable
Regulatory Information
常规特殊物品
Certificates of Analysis (COA)
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Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
Giorgia Girotto et al.
PloS one, 8(12), e80323-e80323 (2013-12-07)
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.
Juliette Mazereeuw-Hautier et al.
Acta dermato-venereologica, 94(5), 591-592 (2014-02-18)
Charles K Abrams et al.
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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