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Key Documents

AV36608

Sigma-Aldrich

Anti-GJB2 antibody produced in rabbit

IgG fraction of antiserum

Synonym(s):

Anti-Gap junction protein, β 2, 26 kDa

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

rabbit

Quality Level

100

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.

NP_003995

UniProt accession no.

P29033

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.

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Storage Class Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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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)
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
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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