antibody

Goat anti-GJB2/Connexin 26 Antibody

MBS421056

0.1 mg

300 USD

polyclonal

goat

nonconjugated

human, mouse, rat

western blot, enzyme immunoassay

Antibody

Goat anti-GJB2/Connexin 26 Antibody

GJB2/Connexin 26

GJB2; Connexin 26; gap junction protein, beta 2, 26kDa (connexin 26); CX26; DFNA3; DFNB1; HID; KID; NSRD1; PPK; gap junction protein beta 2; gap junction protein, beta 2, 26kD (connexin 26); GJB2 antibody; Connexin 26 antibody; gap junction protein; beta 2; 26kDa (connexin 26) antibody; CX26 antibody; DFNA3 antibody; DFNB1 antibody; HID antibody; KID antibody; NSRD1 antibody; PPK antibody; gap junction protein beta 2 antibody; gap junction protein; beta 2; 26kD (connexin 26) antibody; Connexin 26; GJB2 / Connexin 26

gap junction beta-2 protein; Gap junction beta-2 protein; gap junction beta-2 protein; gap junction protein beta 2; Connexin-26; Cx26

GJB2

GJB2; GJB2; HID; KID; PPK; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A; Cx26

CXB2_HUMAN

Polyclonal

Goat

Tested: Mouse; Expected from sequence similarity: Human, Mouse, Rat

226

YLLIRYCSGKSKKP

Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide

Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.

100ug specific antibody in 200ul

Aliquot and store at -20 degree C. Minimize freezing and thawing.

Peptide ELISA (EIA), Western Blot (WB)

Peptide ELISA: Antibody detection limit dilution 1: 128000. Western Blot: Approx 26kDa band observed in Mouse Brain lysates (calculated MW of 26.4kDa according to Mouse NP_032151.1 and 26.2kDa according to Human NP_003995.2). Recommended concentration: 0.01-0.03ug/ml.

Immunogen: Peptide with sequence YLLIRYCSGKSKKP, from the C Terminus of the protein sequence according to NP_003995.2. Epitope: C Terminus

42558283

NP_003995.2

NM_004004.5

26,215 Da

Calcium Regulation In The Cardiac Cell Pathway (198906); Gap Junction Assembly Pathway (1269886); Gap Junction Trafficking Pathway (1269885); Gap Junction Trafficking And Regulation Pathway (1269884); Membrane Trafficking Pathway (1269877); Oligomerization Of Connexins Into Connexons Pathway (1269888); Transport Of Connexins Along The Secretory Pathway (1269887); Transport Of Connexons To The Plasma Membrane Pathway (1269889); Vesicle-mediated Transport Pathway (1269876)

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: Motility/polarity/chemotaxis; Membrane protein, integral; Membrane protein, multi-pass; Cell adhesion. Chromosomal Location of Human Ortholog: 13q11-q12. Cellular Component: connexon complex; ER-Golgi intermediate compartment; integral to membrane; lateral plasma membrane; plasma membrane. Molecular Function: gap junction channel activity. Biological Process: cell-cell signaling; decidualization; gap junction assembly; male genitalia development; response to estradiol stimulus; response to progesterone stimulus; sensory perception of sound; transmembrane transport; transport. Disease: Deafness, Autosomal Dominant 3a; Deafness, Autosomal Recessive 1a; Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes; Deafness, X-linked 2; Ichthyosis, Hystrix-like, With Deafness; Keratitis-ichthyosis-deafness Syndrome, Autosomal Dominant; Keratoderma, Palmoplantar, With Deafness; Knuckle Pads, Leukonychia, And Sensorineural Deafness

0.1 mg

300 USD