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

Chromosome: X; NC_000023.10 (70435062..70445065). Location: Xq13.1

Store all reagents at 2-8 degree C

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Small volumes of GJB1 elisa kit 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.

MBS058760 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Gap Junction Protein Beta 1 (GJB1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing GJB1. The ELISA analytical biochemical technique of the MBS058760 kit is based on GJB1 antibody-GJB1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect GJB1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, GJB1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

32,025 Da

gap junction protein, beta 1, 32kDa

gap junction beta-1 protein; connexin 32; connexin-32; GAP junction 28 kDa liver protein

Gap junction beta-1 protein

CX32; Cx32??[Similar Products]

CXB1_HUMAN

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. 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 cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

GJB1: 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 GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1); 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); 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. Belongs to the connexin family. Beta-type (group I) subfamily.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Membrane protein, multi-pass; Channel, misc.

Chromosomal Location of Human Ortholog: Xq13.1

Cellular Component: connexon complex; endoplasmic reticulum membrane; integral to membrane

Molecular Function: protein homodimerization activity

Biological Process: nervous system development; gap junction assembly; cell-cell signaling; transport

Disease: Charcot-marie-tooth Disease, X-linked Dominant, 1

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