Name: Anti-GJB3 Antibody (CAB2949)
Brand: Cell Biology Antibodies 8
SKU: CAB2949
Availability: OutOfStock

Antibody Name:	Anti-GJB3 Antibody
Antibody SKU:	CAB2949
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant protein of human GJB3

Application:	WB
Recommended Dilution:	WB 1:2000 - 1:50000
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse testis, Mouse intestine

Immunogen:	Recombinant protein of human GJB3
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	Email for sequence
Gene ID:	2707
Uniprot:	O75712
Cellular Location:	Cell junction, Cell membrane, Multi-pass membrane protein, gap junction
Calculated MW:	30kDa
Observed MW:	31kDa

Synonyms:

GJB3, CX31, DFNA2, DFNA2B, EKV, EKVP1

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Membrane protein, integral; Membrane protein, multi-pass; Channel, misc. 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
NCBI Summary:	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]
UniProt Code:	O75712
NCBI GenInfo Identifier:	6014758
NCBI Gene ID:	2707
NCBI Accession:	O75712.1
UniProt Related Accession:	O75712
Molecular Weight:	~31kDa
NCBI Full Name:	Gap junction beta-3 protein
NCBI Synonym Full Names:	gap junction protein beta 3
NCBI Official Symbol:	GJB3
NCBI Official Synonym Symbols:	EKV; CX31; DFNA2; EKVP1; DFNA2B
NCBI Protein Information:	gap junction beta-3 protein
UniProt Protein Name:	Gap junction beta-3 protein
UniProt Synonym Protein Names:	Connexin-31; Cx31
Protein Family:	Gap junction beta-3 protein
UniProt Gene Name:	GJB3
UniProt Entry Name:	CXB3_HUMAN

Western blot analysis of extracts of various cell lines, using GJB3 antibody (CAB2949) at 1:500 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021).

ELISA Kits

Human CX31 (Connexin 31) ELISA Kit (HUES01966)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)