Gap junction protein β 2 (GJB2) or connexin 26 (CX26) is a gap junction protein which is part of the connexin (Cx) family. It is expressed in epidermal keratinocytes and cochlea. The protein has four a-helical transmembrane domains, two extracellular loops, a cytoplasmic N-terminal domain and a C-terminal domain. The gene encoding GJB2 consists of two exons and is localized on human chromosome 13q12.
Immunogen
Peptide with sequence YLLIRYCSGKSKKP from the C Terminus of the protein sequence according to NP_003995.2.
Application
Anti-GJB2/Connexin 26 antibody produced in goat has been used in Western blotting.
Biochem/physiol Actions
Gap junction protein β 2 (GJB2) forms hexameric transmembrane channels called connexons, which is vital for gap junction communication. It has a role in the migration of cortical neurons during cortex development. GJB2 is involved in recycling potassium ions which is crucial for the hearing process. Mutations in the gene encoding this protein have been associated with skin disorders and sensorineural hearing loss.
Features and Benefits
Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.
Physical form
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
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.
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S
Human Molecular Genetics, 26(6) (2017)
Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated With the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (2017)
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Sandra Iossa
Current Genomics (2011)
Non-junctional Cx32 mediates anti-apoptotic and pro-tumor effects via epidermal growth factor receptor in human cervical cancer cells
Yifan Zhao
Cell Death & Disease (2017)
Cell coupling mediated by connexin 26 selectively contributes to reduced adhesivity and increased migration.
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