Western Blot (WB)
(Anti-GJB2 antibody, MBS175180, Western blottingWB: Rat Liver Tissue Lysate )
Rabbit GJB2 Polyclonal Antibody | anti-GJB2 antibody
Anti-GJB2 antibody
Western Blot (WB)
(Anti-GJB2 antibody, MBS175180, Western blottingWB: Rat Liver Tissue Lysate )
Western Blot (WB)
(Anti-GJB2 antibody, MBS175180, Western blottingWB: Rat Liver Tissue Lysate )
Background: Connexin26(CX26), also known as GAP junction protein, beta2, GJB2. Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The 3-prime untranslated region of the CX26 transcript contains a putative mRNA instability sequence. The deduced 226-amino acid protein has a calculated molecular mass of about 26 kD. CX26 shares 92.5% identity with rat Cx26. connexin 26(GJB2) is assigned to human chromosome 13q11-q12.Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. Connexin 26 gene(GJB2) mutation modulates the severity of hearing loss associated with the 1555A-G mitochondrial mutation.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
Uniprot Description
GJB2: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A). DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A). Defects in GJB2 are a cause of Vohwinkel syndrome (VS). VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness. Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN). PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. Defects in GJB2 are a cause of keratitis-ichthyosis- deafness syndrome (KID syndrome); an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS). BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome). HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. Belongs to the connexin family. Beta-type (group I) subfamily.
Protein type: Motility/polarity/chemotaxis; Membrane protein, multi-pass; Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 13q11-q12
Cellular Component: connexon complex; ER-Golgi intermediate compartment; integral to membrane; plasma membrane; lateral plasma membrane
Molecular Function: gap junction channel activity
Biological Process: sensory perception of sound; gap junction assembly; cell-cell signaling; transport; male genitalia development; decidualization; response to progesterone stimulus; transmembrane transport; response to estradiol stimulus
Disease: Deafness, Autosomal Recessive 1a; Ichthyosis, Hystrix-like, With Deafness; Deafness, X-linked 2; Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes; Keratitis-ichthyosis-deafness Syndrome, Autosomal Dominant; Knuckle Pads, Leukonychia, And Sensorineural Deafness; Keratoderma, Palmoplantar, With Deafness; Deafness, Autosomal Dominant 3a
Research Articles on GJB2
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Product Notes
The GJB2 gjb2 (Catalog #AAA175180) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-GJB2 antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's GJB2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the GJB2 gjb2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "GJB2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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