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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Structural component of lens fiber 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.
基因功能參考文獻:
novel mutation in GJA3 for autosomal dominant congenital cataract PMID: 28877251
The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. PMID: 27609163
in vivo results indicated that down-regulation of GJA3 in lens epithelial cells was associated with age-related cataract genesis. Data from this study established the association of GJA3 down regulation with lens epithelial cells apoptosis and age-related cataract genesis PMID: 28088522
the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50. PMID: 27143357
A novel missense GJA3 mutation that correlated with congenital cataract phenotype in a five-generation Chinese family. PMID: 26683566
This study identified three mutations in three Chinese families with hereditary cataracts. Of the three mutations, two were novel (c.125 A > C in GJA3 and c.268 C > T in GJA3), one was previously reported (c.218 C > T in GJA8). PMID: 25549162
The cataract related mutation N188T in human connexin46 revealed a critical role for residue N188 in the docking process of gap junction channels. PMID: 26449341
A novel missense mutation, c.428G>A (p.G143E), in the GJA3 gene, localized to the cytoplasmic loop, was suggested to be the genetic cause of congenital nuclear cataract, which further expands the gene mutation spectrum. PMID: 25635993
A novel GJA3 mutation (p.N55D) has been found in a Chinese family with congenital cataracts. PMID: 24728566
The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. PMID: 24319337
a GJA3 mutation in a Chinese family with congenital nuclear cataract PMID: 24772942
these results suggest that mutation of this highly conserved residue on the cytoplasmic loop domain of Cx46 enhances its interaction with the C-terminus, resulting in a reduction of gap junction channel function PMID: 24019978
A 1361 insertion of a cytosine mutation in the C-terminus of GJA3 is found to be associated with autosomal dominant congenital coralliform cataract. PMID: 23592915
Coexpression of mutant with wild-type Cx50 or Cx46 gives rise to hemichannels with distinct electrophysiological properties, suggesting that the mutant connexins form heteromeric channels with wild-type connexins. PMID: 23302783
Suggest that Cx46 and Cx26 expression in breast cancer may improve the assessment of pathological response and refine intermediate prognostic subgroups of residual tumour classifications used after neoadjuvant chemotherapy. PMID: 23374644
These data indicate that biophysical and structural studies are converging towards a view that the N-terminal half of the Cx protein contains the principal components of the pore and gating elements. PMID: 22825713
the negatively charged aspartic acid residue at the third position of the N-terminus of hCx46 could be involved in the determination of the degree of metabolite cell-to-cell coupling and is essential for the voltage sensitivity of the hCx46 hemichannels. PMID: 22843197
A c.427G>A transition in exon 2 of GJA3 co-segregated with the cataract in the family members and was not observed in 100 control patients. PMID: 22876138
A novel mutation (p.F206I) in the fourth transmembrane domain of connexin 46 is associated with autosomal dominant congenital cataract in a three-generation Chinese family. PMID: 22550389
Novel missense mutation in the second extracellular loop of the GJA3 protein was detected, causing coral-like opacities in a Chinese family. PMID: 22312188
Cx46G2D of GJA3 is a novel mutation that was identified in a Chinese family with autosomal dominant nuclear pulverulent and posterior polar congenital cataracts. PMID: 21681855
A recurrent missense mutation in GJA3 is associated with autosomal dominant cataract linked to chromosome 13q in a 5-generation Caucasian American family. PMID: 21897748
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree. PMID: 21647269
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. PMID: 21552498
The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. PMID: 21386927
Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany. PMID: 21031021
Novel missense mutation identified in first extracellular loop of connexin 46; this expands mutation spectrum of GJA3 in association with congenital cataract. PMID: 20431721
Upregulation of connexin46 is associated with breast tumors. PMID: 20013805
This finding is the first report of a mutation in the first transmembrane region of GJA3. PMID: 14627959
The present study has identified a fifth mutation in GJA3, rendering this connexin gene one of the most common non-crystallin genes associated with autosomal dominant cataracts in humans. PMID: 15208569
A novel CX46 missense mutation indetified in a large autosomal dominant congenital cataract Australian pedigree. PMID: 15286166
We conclude that connexin 46 mutations might account for as much as 3.3% of the hereditary congenital cataract in the Indian population. PMID: 16254549
This is the first report of a mutation in GJA3 causing autosomal dominant congenital cataract (ADCC) in this ethnic group. It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein. PMID: 16885921
The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain. PMID: 16971895
Particular form of Pelizaeus-Merzbacher disease involves mutation in connexin 46. PMID: 17492548
This is a novel mutation identified in the second transmembrane domain of the connexin 46. PMID: 17615540
Novel mutation (R33L) in the GJA3 associated with finely granular embryonal cataract. PMID: 17893674
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相關疾病:
Cataract 14, multiple types (CTRCT14)
亞細胞定位:
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.