Connexin 26 expression and mutation analysis in epidermal disease.
Gap junctional communication has a key role in the co-ordination of keratinocyte differentiation. Multiple connexins are expressed in the epidermis and mutations in four of these connexins are associated with disorders of keratinisation. Specific autosomal dominant Cx26 mutations have been associated with syndromes of skin disease and hearing loss. Here we describe the characterization of a new Cx26 polyclonal antibody raised against the cytoplasmic region of the protein. It has been used to investigate Cx26 protein localization in epidermal disease and in the study of mutant Cx26 proteins.
Di
W L
WL
Centre for Cutaneous Research, Barts and The London School of Medicine and Dentistry, Queen Mary, University of London, UK.
Common
J E
JE
Kelsell
D P
DP
D000818:Animals; D000906:Antibodies; D002450:Cell Communication / Q000502:physiology*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D004817:Epidermis / Q000378:metabolism* / Q000473:pathology; D017629:Gap Junctions / Q000378:metabolism; D006367:HeLa Cells; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D010455:Peptides / Q000276:immunology / Q000378:metabolism; D012873:Skin Diseases, Genetic / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome
D000906:Antibodies; D017630:Connexins; C000607042:GJB2 protein, human; D010455:Peptides; D000072259:Connexin 26