GJB2, Polyclonal Antibody

Gap junction beta-2 protein; connexin 26; CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; HID; KID; NSRD1; PPK; gap junction protein, beta 2, 26kDa

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

GJB2 antibody is human specific.

GJB2 antibody is affinity chromatography purified via peptide column.

Liquid

1 mg/mL (lot specific)

GJB2 antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year.

Small volumes of anti-GJB2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

The Gap junction beta-2 protein (GJB2), also known as Connexin 26, is member of the gap junction protein family which form structures that were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells (1). Mutations in the GJB2 gene are thought to be responsible for as much as 35-45% of congenital sensorineural hearing loss in some populations (2). Other mutations in this gene have also been linked to a wide array of skin diseases (3).

ELISA (EIA), Western Blot (WB)

GJB2 antibody can be used for detection of GJB2 by Western blot at 1 - 2 mug/ml.

Western blot analysis of GJB2 in human colon tissue lysate with GJB2 antibody at (A) 1 and (B) 2 μg/ml.

Predicted: 25 kDa

Observed: 26 kDa

gap junction protein, beta 2, 26kDa

gap junction beta-2 protein; connexin 26; gap junction protein beta 2

Gap junction beta-2 protein

Cx26  [Similar Products]

CXB2_HUMAN

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]

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: Membrane protein, multi-pass; Cell adhesion; Motility/polarity/chemotaxis; Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q11-q12

Cellular Component: connexon complex; plasma membrane; ER-Golgi intermediate compartment; integral to membrane; lateral plasma membrane

Molecular Function: gap junction channel activity

Biological Process: sensory perception of sound; cell-cell signaling; gap junction assembly; 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; Deafness, Autosomal Dominant 3a; Keratoderma, Palmoplantar, With Deafness

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