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Connexin 43 (CX43)

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ODDD; GJAL; GJA1; GJ-A1; Gap junction 43 kDa heart protein; Gap Junction Protein Alpha 1; Oculodentodigital Dysplasia; Syndactyly Type III

Connexin 43 (CX43)
CCC A277
HGNC 4274
MGI 1098230
PubMed 15618229
RGD 2690
UniProt P17302
Wiki Connexin_43

Connexin 43 is a connexin gap junction found in several organs and cell types, but is most often found in the heart. Current data suggest Cx43 is essential for the development of normal cardiac architecture and ventricular conduction. Two members of the connexin gene family, connexins 43 and 32, or GJB1, are abundantly expressed in the heart and liver, respectively. GAP43-like immunoreactivity in rat is mainly present in sympathetic and sensory nerve fibers as well as in perivascular nerve terminals. This peptide is axonally transported predominantly in sensory and adrenergic axonsSohl et al. (2003) stated that the mouse and human CX43 share 97% amino acid identity. Northern blot analysis detected variable expression of a 3.0-kb CX43 transcript in both mouse and human, with highest expression in heart.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Hu01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
RPA277Hu02 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Hu01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC
MAA277Hu22 Monoclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits SEA277Hu ELISA Kit for Connexin 43 (CX43) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Mu01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
RPA277Mu02 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
EPA277Mu61 Eukaryotic Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
APA277Mu61 Active Connexin 43 (CX43) Cell culture; Activity Assays.
Antibodies PAA277Mu01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
PAA277Mu02 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits SEA277Mu ELISA Kit for Connexin 43 (CX43) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Ra01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Ra01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
MAA277Ra21 Monoclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits SEA277Ra ELISA Kit for Connexin 43 (CX43) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Oryctolagus cuniculus (Rabbit)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Rb01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Rb51 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer

Organism species: Rhesus monkey (Simian)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Si01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Si01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer

Organism species: Canis familiaris; Canine (Dog)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Ca01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Ca01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer

Organism species: Sus scrofa; Porcine (Pig)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Po01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Po01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer

Organism species: Bos taurus; Bovine (Cattle)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Bo01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Bo01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer

Organism species: Chicken (Gallus)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA277Ga01 Recombinant Connexin 43 (CX43) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA277Ga01 Polyclonal Antibody to Connexin 43 (CX43) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Connexin 43 (CX43) CLIA Kit Customized Service Offer
n/a ELISA Kit for Connexin 43 (CX43) ELISA Kit Customized Service Offer
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  11. "Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy."Heart 77:369-370(1997) [PubMed] [Europe PMC] [Abstract]
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  13. "Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness."Hum. Mol. Genet. 10:2945-2951(2001) [PubMed] [Europe PMC] [Abstract]
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  16. "Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells."Mol. Carcinog. 42:159-169(2005) [PubMed] [Europe PMC] [Abstract]
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  18. "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia."Am. J. Hum. Genet. 72:408-418(2003) [PubMed] [Europe PMC] [Abstract]
  19. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  20. "The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation."J. Biol. Chem. 287:15851-15861(2012) [PubMed] [Europe PMC] [Abstract]
  21. "Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality."N. Engl. J. Med. 332:1323-1329(1995) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)."Mutat. Res. 479:173-186(2001) [PubMed] [Europe PMC] [Abstract]
  23. "Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair."Am. J. Med. Genet. A 127:152-157(2004) [PubMed] [Europe PMC] [Abstract]
  24. "A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype."Hum. Mutat. 23:286-286(2004) [PubMed] [Europe PMC] [Abstract]
  25. "Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly."J. Med. Genet. 41:60-67(2004) [PubMed] [Europe PMC] [Abstract]
  26. "A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly."Am. J. Med. Genet. A 133:58-60(2005) [PubMed] [Europe PMC] [Abstract]
  27. "Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia."Am. J. Med. Genet. A 139:48-49(2005) [PubMed] [Europe PMC] [Abstract]
  28. "A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia."Arch. Ophthalmol. 123:1422-1426(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Mutations of connexin43 in fetuses with congenital heart malformations."Chin. Med. J. 118:971-976(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia."Eur. J. Dermatol. 15:75-79(2005) [PubMed] [Europe PMC] [Abstract]
  31. "Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)."Eur. J. Med. Genet. 48:377-387(2005) [PubMed] [Europe PMC] [Abstract]
  32. "Clinical and genetic variability of oculodentodigital dysplasia."Clin. Genet. 70:71-72(2006) [PubMed] [Europe PMC] [Abstract]
  33. "A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis."Eur. J. Dermatol. 16:241-245(2006) [PubMed] [Europe PMC] [Abstract]
  34. "Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene."Int. J. Oral Maxillofac. Surg. 36:858-860(2007) [PubMed] [Europe PMC] [Abstract]
  35. "A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features."Ophthalmic Genet. 28:198-202(2007) [PubMed] [Europe PMC] [Abstract]
  36. "GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype."Hum. Mutat. 30:724-733(2009) [PubMed] [Europe PMC] [Abstract]
  37. "Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation."Arch. Ophthalmol. 129:781-784(2011) [PubMed] [Europe PMC] [Abstract]
  38. "A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family."Clin. Genet. 84:378-381(2013) [PubMed] [Europe PMC] [Abstract]
  39. "A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia."PLoS ONE 8:E73576-E73576(2013) [PubMed] [Europe PMC] [Abstract]
  40. "Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum."Gene 539:157-161(2014) [PubMed] [Europe PMC] [Abstract]