GJC2 Antibody

Code CSB-PA065045
Size US$166
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Image
  • The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using CSB-PA065045(GJC2 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 thyroid cancer tissue using CSB-PA065045(GJC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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Product Details

Uniprot No.
Target Names
GJC2
Alternative Names
GJC2; GJA12; Gap junction gamma-2 protein; Connexin-46.6; Cx46.6; Connexin-47; Cx47; Gap junction alpha-12 protein
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Synthetic peptide of Human GJC2
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,IHC
Recommended Dilution
Application Recommended Dilution
ELISA 1:2000-1:5000
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
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. May play a role in myelination in central and peripheral nervous systems.
Gene References into Functions
  1. Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease. PMID: 28712094
  2. GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies. PMID: 24374284
  3. we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature. PMID: 23550541
  4. a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease PMID: 23684670
  5. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations PMID: 22283455
  6. Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 GJ function in the glial network, which may play a role in leading to PMLD symptoms PMID: 23544880
  7. the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein PMID: 22669416
  8. founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease PMID: 23142375
  9. Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema PMID: 22351697
  10. We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation PMID: 21959080
  11. Mutations within the GJC2 gene are associated with primary lymphoedema. PMID: 21266381
  12. The identification of GJC2 mutations as a cause of primary lymphedema PMID: 20537300
  13. GJA12 gene mutations reported from two Chinese Pelizaeus-Merzbacher-like disease patients PMID: 19423250
  14. She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy. PMID: 20120347
  15. Patients from one family carrying a homozygous frameshift mutation in GJA12 presenting with nystagmus and brain demyelinating disease. PMID: 16969684
  16. GJA12 mutations are the initiaial genetic test in patients with consanguineous parents with Pelizaeus-Merzbacher-like disease. PMID: 17031678
  17. study shows the Cx47 mutants associated with Pelizaeus-Merzbacher-like disease likely disrupt the gap junction coupling between astrocytes and oligodendrocytes PMID: 17344063
  18. The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of PLP1-related disorder but with better cognition and earlier signs of axonal degeneration. PMID: 18094336
  19. GJA12 alterations are a rare cause of Pelizaeus-Merzbacher-like disease even after extending the screening for copy number variation and for mutations in the non-coding region of GJA12. PMID: 18521858
  20. GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known. PMID: 19056803

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Involvement in disease
Leukodystrophy, hypomyelinating, 2 (HLD2); Spastic paraplegia 44, autosomal recessive (SPG44); Lymphedema, hereditary, 1C (LMPH1C)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Protein Families
Connexin family, Gamma-type subfamily
Tissue Specificity
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
Database Links

HGNC: 17494

OMIM: 608803

KEGG: hsa:57165

STRING: 9606.ENSP00000355675

UniGene: Hs.100072

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