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Key Documents

SAB4200730

Sigma-Aldrich

Anti-Connexin 43 antibody, Mouse monoclonal

clone CXN-6, hybridoma cell culture supernatant

Synonyme(s) :

Anti-AVSD3, Anti-CMDR, Anti-CX43, Anti-EKVP, Anti-EKVP3, Anti-GJAL, Anti-HLHS1, Anti-HSS, Anti-ODDD, Anti-PPKCA

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About This Item

Code UNSPSC :
12352203
Nomenclature NACRES :
NA.41

Source biologique

mouse

Niveau de qualité

Forme d'anticorps

culture supernatant

Type de produit anticorps

primary antibodies

Clone

CXN-6, monoclonal

Forme

buffered aqueous solution

Espèces réactives

chicken, rat, feline, bovine, human, porcine, mouse

Conditionnement

antibody small pack of 25 μL

Concentration

~1.0 mg/mL

Technique(s)

immunoblotting: 1:5,000-1:7,500 using mouse myoblast C2C12 cell line extract
immunofluorescence: 1:500-1:1,000 using mouse myoblast C2C12 cell line
immunohistochemistry: 1:200-1:500 using heat-retrieved formalin-fixed, paraffin-embedded mouse heart sections

Isotype

IgM

Numéro d'accès UniProt

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

bovine ... Gja1(281193)
cat ... Gja1(101100211)
chicken ... Gja1(395278)
human ... GJA1(2697)
mouse ... Gja1(14609)
rat ... Gja1(24392)

Description générale

Connexin 43 (Cx43) is also known as gap junction alpha-1 protein (GJA1). It is mapped to human chromosome 6q22.31. Cx43 is membrane protein with four transmembrane spanning regions, which comprise the gap junction channel. The loop connecting the transmembrane regions play a key role in channel docking. The N- and C-terminal amino acids are exposed to cytoplasm.

Immunogène

synthetic peptide from the C-terminal region of Connexin 43 protein, conjugated to KLH

Actions biochimiques/physiologiques

Connexin 43 (Cx43) function is controlled by phosphorylation, SUMOylation and ubiquitination. The C-terminal tail of Cx43 modulates cytoskeletal dynamics and cell migration properties. Mutation in Cx43 leads to dysfunction of channel regulation domain and is associated with pathogenesis of hypoplastic left heart syndrome (HLHS). Cx43 dysregulation in testis contributes to infertility and testicular tumor. A gene mutation in the Cx43 results in abnormal development of eyes and teeth in oculodentodigital dysplasia (ODDD) , craniometaphyseal dysplasia and sudden infant death syndrome. Mutations in the GJA1 results in abnormal facial and skull development in hallermann-streiff syndrome (HSS). Missense mutations in GJA1 gene is also implicated in skin disorder called the, erythrokeratodermia variabilis et progressiva (EKVP)

Forme physique

The product is supplied as a culture supernatant solution containing 15 mM sodium azide as a preservative. The product contains bovine serum albumin and a human-derived protein.

Clause de non-responsabilité

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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Code de la classe de stockage

10 - Combustible liquids

Classe de danger pour l'eau (WGK)

WGK 1

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable


Certificats d'analyse (COA)

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Consulter la Bibliothèque de documents

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
Boyden LM, et al.
The Journal of Investigative Dermatology, 135(6), 1540-1547 (2015)
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
Himi M, et al.
Japanese Journal of Ophthalmology, 53(5), 541-541 (2009)
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype
Pizzuti A, et al.
Febs Letters, 23(3), 286-286 (2004)
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)
Dasgupta C, et al.
Mutation Research. Fundamental and Molecular Mechanisms of Mutagenesis, 479(1), 173-186 (2001)
Structural organization of gap junction channels
Sosinsky GE and Nicholson BJ
Biochimica et Biophysica Acta - Biomembranes, 1711(2), 99-125 (2005)

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