GJB4 Antibody

Code CSB-PA558294
Size US$166
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Image
  • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA558294(GJB4 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using CSB-PA558294(GJB4 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • Gel: 10%SDS-PAGE, Lysate: 40 μg, Lane 1-2: Mouse skin tissue, Hela cells, Primary antibody: CSB-PA558294(GJB4 Antibody) at dilution 1/200, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 5 minutes
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Product Details

Uniprot No.
Target Names
GJB4
Alternative Names
GJB4; Gap junction beta-4 protein; Connexin-30.3; Cx30.3
Raised in
Rabbit
Species Reactivity
Human,Mouse
Immunogen
Synthetic peptide of Human GJB4
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Isotype
IgG
Purification Method
Antigen affinity purification
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
Liquid
Tested Applications
ELISA,WB,IHC
Recommended Dilution
Application Recommended Dilution
ELISA 1:2000-1:5000
WB 1:500-1:2000
IHC 1:50-1:200
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
Gene References into Functions
  1. GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4. PMID: 25333454
  2. In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
  3. Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene. PMID: 23037955
  4. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
  5. Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation. PMID: 22266302
  6. There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
  7. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families PMID: 11933201
  8. the involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis PMID: 12648223
  9. These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes. PMID: 14583444
  10. Not all clinically diagnosed individuals with erythrokeratoderma variabilis harbor Cx30.3 disease-associated mutations. PMID: 16297190
  11. Five patients with erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). PMID: 19291775

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Involvement in disease
Erythrokeratodermia variabilis et progressiva 2 (EKVP2)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Protein Families
Connexin family, Beta-type (group I) subfamily
Database Links

HGNC: 4286

OMIM: 605425

KEGG: hsa:127534

STRING: 9606.ENSP00000345868

UniGene: Hs.351203

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