Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQAD FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRH EKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAF MYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSG ICILLNVTELCYLLIRYCSGKSKKPV
    • Molecular weight
      51 kDa including tags
    • Amino acids
      1 to 226

Specifications

Our Abpromise guarantee covers the use of ab152424 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • connexin 26
    • Connexin-26
    • Cx26
    • CXB2_HUMAN
    • DFNA3
    • DFNB1
    • Gap junction beta-2 protein
    • GJB2
    • HID
    • KID
    • NSRD1
    • PPK
    see all
  • Function
    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.
  • Involvement in disease
    Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]. 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) [MIM:601544].
    Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:124500]. 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) [MIM:148350]. 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) [MIM:148210]; 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) [MIM:149200]. 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) [MIM:602540]. 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.
  • Sequence similarities
    Belongs to the connexin family. Beta-type (group I) subfamily.
  • Cellular localization
    Cell membrane. Cell junction > gap junction.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152424 stained with Coomassie Blue.

References

ab152424 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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