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Validated All-in-One™ qPCR Primer for GJB1(NM_001097642.3) Search again
Product ID:
HQP154332
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMTX, CMTX1, CX32
Gene Description:
gap junction protein beta 1
Target Gene Accession:
NM_001097642.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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].
Gene References into function
- Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease
- Cx32 mutants that are associated with a CNS phenotype do not interact with Cx45, but may instead have other toxic effects in oligodendrocytes.
- alpha-catenin facilitates trafficking of connexins 32 and 43 to the cell surface and induces gap junction assembly
- A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing
- G/A transition (Ala40Thr)in a conserved transmembrane region of the connexin-32 gene was also found associated with X-linked Charcot-Marie-Tooth disease
- These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy.
- gap junctional intercellular communication in hepatocellular carcinoma cell lines, and signal transduction mechanism of gap junction genes connexin32, connexin43 in hepatocarcinogenesis.
- A mutation of the Cx32 gene is identified, consisting of a guanine to adenine transition at position 271 (271G-A) in a large Turkish family (N=39) with Charcot-Marie-Tooth disease.
- Data show that connexin 32 (Cx32)-transfected HepG2 cells not only expressed a higher level of Cx32 mRNA, but also showed increased gap junctional intercellular communication.
- Mutation (D178Y) that causes an inherited peripheral neuropathy induces a complete Ca2+ deregulation of Cx32 hemichannel activity.
- Transgenic mice with the mutant Cx32 gene are more susceptible to diethylnitrosamine-induced hepatocarcinogenesis, developing more liver tumors with shorter latency.
- molecular genetic analysis of the GJB1 gene in Charcot-Marie-Tooth type X1 disease
- 10 of 22 CMTX Cx32 mutations studied in the present investigation could lead to the assembly of defective Cx32 gap junctions, which in turn may result in peripheral neuropathy
- mRNA level correlates with cell differentiation, nd is predictive of postopoperative recurrence in hepatocellular carcinoma.
- This study identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp.
- Nine patients had clinical features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth neuropathy phenotype showed a G-to-A transition at position -215 of the nerve-specific promoter P2 of the Cx32 gene.
- Cpmmexom 32 was found intracellularly in activated hepatic stellate cells.
- Human Cx32 protein "rescued" the phenotype of cx32-null mice. The transgenic mice have less demyelinated or remyelinated axons than nontransgenic littermates. Loss of Schwann-cell-autonomous expression of Cx32 is sufficient for demyelination in CMT1X.
- The connexin 32 were sparsely distributed In epithelial cells.
- A Charcot-Marie-Tooth syndrome in a family with a missense mutation in GJB1.
- Cx32 is prenylated, but that prenylation is not required for proper trafficking of Cx32 and perhaps not even for certain aspects of its function, in myelinating Schwann cells.
- Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
- This study identified a novel substitution T>C in the P2 promoter of GJB1 at position -529, in the SOX10 binding site S2 in a family with X-linked dominant Charcot-Marie-Tooth neuropathy.
- In transgenic mice that express the R142W mutation in myelinating Schwann cells, the Arg142Trp mutant protein is aberrantly localized to the Golgi, indicating that it does not traffic properly.
- We describe an Italian family with an intermediate CMTX phenotype with late onset. Mutation screening of the GJB1 gene revealed a 9-bp duplication leading to the insertion of three aminoacids.
- Most GJB1 mutations cause neuropathy by a loss of normal connexin 32 function.
- cytoplasmic Cx32 protein exerts effects favourable for HCC progression, such as invasion and metastasis, once the cells have acquired a malignant phenotype.
- a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction.
- we refer to a new aspect of Cx32-dependent functions against cell proliferation, invasion and metastasis in RCC cells, especially in a GJIC-independent manner[review]
- Connexin 32 may contribute to the enhancement of vinorelbine-induced cytotoxicity in A549 lung cancer cells.
- Two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode.
- Result of DNA sequencing demonstrated that both families with X-linked Charcot-Marie-Tooth disease had a same mutation of 622G-->A, which resulted in a substitution of Glu208Lys.
- This studies identified a L89P mutation for the first time in a CMTX1 family in China and an associated response to PMP22 in males.
- results suggest that Cx32 inhibits hypoxia adaptation governed by HIF-2alpha, and this may help to reduce the metastasis of renal cell carcinoma cells
- Polarized Caco-2/TC7 cells express significant amounts of Cx26, Cx32 and Cx43.
- Increased expression of Cx32 in metastases to the lymph nodes might reflect alteration in connexin gene transcription during breast carcinogenesis and finally, it may be a sign of more malignant phenotype of cancerous cells.
- Cx32 mutants with central nervous system manifestations are retained intracellularly in oligodendrocytes, but do not alter the co-expression of Cx31.3.
- Charge selectivity of the Cx32*43E1 chimeric hemichannel can be determined by the combined actions of charges dispersed over the permeation pathway rather than by a defined region that acts as a charge selectivity filter.
- identified 22 mutations in GJB1 in Italian patients with X-linked Charcot-Marie-Tooth disease
- Calmodulin association with connexin32-derived peptides suggests trans-domain interaction in chemical gating of gap junction channels.
- report of 2 brothers who presented with pyramidal weakness, dysarthria, ataxia & bulbar weakness a year apart predating genomic Charcot Marie Tooth disease diagnosis; both boys & their mother were later confirmed to have a V139M mutation in the GJB1gene
- The Ser128Leu mutation in the Cx-32 gene is a novel substitution found in several members of an Italian Charcot-Marie-Tooth family.
- Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan