Recombinant Gap junction beta-3 protein (GJB3); Gap junction beta-3 protein; Connexin-31; Cx31

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

Chromosome: 1; NC_000001.10 (35246790..35251967). Location: 1p34

E Coli or Yeast or Baculovirus or Mammalian Cell

>=90% (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degree C. For extended storage, store at -20 or -80 degree C.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of GJB3 recombinant protein 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.

30,818 Da[Similar Products]

gap junction protein, beta 3, 31kDa

gap junction beta-3 protein; connexin 31; connexin-31

Gap junction beta-3 protein

CX31; Cx31??[Similar Products]

CXB3_HUMAN

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GJB3: 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 GJB3 are a cause of erythrokeratodermia variabilis (EKV). EKV is a genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. Defects in GJB3 are the cause of deafness autosomal dominant type 2B (DFNA2B). DFNA2 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. Belongs to the connexin family. Beta-type (group I) subfamily.

Protein type: Membrane protein, integral; Channel, misc.; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p34

Cellular Component: connexon complex; cytoplasm; gap junction; integral to membrane

Molecular Function: gap junction channel activity

Biological Process: skin development; sensory perception of sound; in utero embryonic development; cell communication; transmembrane transport; placenta development

Disease: Deafness, Autosomal Recessive 1a; Deafness, Autosomal Dominant 2b; Erythrokeratodermia Variabilis Et Progressiva

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