Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSS FICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQH IEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFM YVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGI CIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINK LLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
    • Amino acids
      1 to 283
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158522 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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
    • Charcot Marie Tooth neuropathy X linked
    • CMTX
    • CMTX 1
    • CMTX1
    • Connexin-32
    • Connexin32
    • CX 32
    • Cx32
    • CXB1_HUMAN
    • GAP junction 28 kDa liver protein
    • Gap junction beta 1 protein
    • Gap junction beta-1 protein
    • Gap junction protein beta 1
    • Gap junction protein beta 1 32kD
    • GJB 1
    • GJB1
    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 GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]; also designated CMT-X. CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
    Defects in GJB1 may contribute to the phenotype of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
  • Sequence similarities
    Belongs to the connexin family. Beta-type (group I) subfamily.
  • Cellular localization
    Cell membrane. Cell junction > gap junction.
  • Information by UniProt

Images

  • ab158522 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158522 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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