Gap Junction Protein, alpha 8, 50kDa Proteine (GJA8)

GJA8 encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. Zusätzlich bieten wir Ihnen Gap Junction Protein, alpha 8, 50kDa Antikörper (60) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
GJA8 14616 P28236
Ratte GJA8 GJA8 29601  
GJA8 2703 P48165
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,749.58
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Insektenzellen Maus rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Anmelden zum Anzeigen 50 bis 55 Tage
$5,262.31
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Escherichia coli (E. coli) Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$5,370.21
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Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$340.00
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 11 Days
$888.80
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GJA8 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Mouse (Murine) ,
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Human , ,
, , ,

Weitere Proteine zu Gap Junction Protein, alpha 8, 50kDa (GJA8) Interaktionspartnern

Mouse (Murine) Gap Junction Protein, alpha 8, 50kDa (GJA8) Interaktionspartner

  1. These results suggest that expression of Cx50D47A induces ER stress, triggering activation of the PERK-ATF4 pathway, which potentially contributes to the lens pathology and leads to increased expression of anti-apoptotic factors, allowing cell survival.

  2. Study showed that mouse horizontal cells establish a coupled dendritic network by Cx57 and two coupled axon terminal networks, one made of Cx50 and the other made of Cx57 channels

  3. data show that expression and phosphorylation of Cx46 and Cx50 are complementary in seminiferous tubules

  4. demonstrate, at the whole gap junction channel level, a crucial role of the surface charge properties in the first transmembrane/first extracellular border domain in determining the efficiency of ion permeation and the Vj gating of Cx50

  5. Data show that Ca(V) 1.2 and 1.3 channels are expressed in lens, regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins 50 and 46.

  6. The Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia.

  7. D3 residue plays an essential role in unitary conductance of Cx50 gap junction channels

  8. Normal Cx50 function requires an intact PDZ domain-binding motif.

  9. These results showed that the binding of calcium/calmodulin to the intracellular loop of connexin 50 (Cx50) is critical for mediating the Ca2+-dependent inhibition of Cx50 gap junctions

  10. Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 gene.

  11. The N terminus of Cx50 is critical for both the V(j)-gating and the gamma(j), and the introduction of a positively charged Arg at the ninth position reduced the G(min) with a correlated disappearance of the substate at the single channel level.

  12. alpha8 connexin is required for proper fiber cell maturation and control of lens size

  13. intrinsic properties of Cx50 are required for cellular growth of lens cells

  14. Cx50-mediated communication is necessary to achieve peak mitosis. Possible novel mitogenic role for gap junctional coupling, connexin specific and independent of MAPK signaling.

  15. The hypothesis that the way in which V(j) gating reacts to CO(2) might be related to connexin 50 gating polarity is confirmed here.

  16. Results indicates connexin 50 expressed alone are recruited into different lipid environments and interaction of connexins and MP26 contributes to the overall organization of the fiber cells.

  17. 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.

  18. The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.

  19. MAPK signaling specifically modulates coupling mediated by Cx50 and that gap junctional communication and signal transduction pathways may interact in osmotic regulation during postnatal fiber development.

  20. These data suggest that dominant inhibition of Cx43 mediated epithelial cell coupling may play a role in the lens pathophysiology caused by the Cx50-S50P mutation.

Human Gap Junction Protein, alpha 8, 50kDa (GJA8) Interaktionspartner

  1. Together, these results suggest that in addition to forming gap junction channels, Cx50 acts as an adhesive molecule that is critical in maintaining lens fiber integrity and epithelial-fiber differentiation.

  2. this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity

  3. The mutation c.139G>A in the GJA8 gene detected in the present study was also previously reported in Caucasian and Chinese families but with different phenotypes, i.e. nuclear and nuclear pulverulent cataracts. Thus, the mutation c.139G>A in GJA8 appears to exhibit marked interfamilial phenotypic variability.

  4. The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese congenital cataract cohort studied.

  5. GJA8 is the newly identified genetic cause of familial congenital cataract.

  6. Data indicate de novo heterozygous mutations affecting the same codon of gap junction alpha-8 protein (GJA8) p.(Gly94Glu) and p.(Gly94Arg) )in 2 of the probands, in addition to the p.(Asp51Asn) mutation previously identified in the third case.

  7. Study identified two novel missense mutations within P59 and R76 of Cx50 that are associated with autosomal dominant congenital cataracts (ADCC). Functional analysis showed that Cx50R76H localized at appositional membranes forming gap junctions with enormous cytoplasmic protein accumulation, whereas the Cx50P59A mutation was found inefficient at forming detectable plaques.

  8. The novel insert mutation in the TM2 domain of Cx50 protein, which impairs its trafficking to the cell membrane and gap-junction function, is associated with the cataract formation in this Chinese pedigree.

  9. study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant

  10. The missense mutation c.139G > A in GJA8 gene is associated with autosomal dominant congenital cataract in a six-generation Chinese family. The result of this present study provides further evidence that the p. D47N mutation in CX50 is a hot-spot mutation.

  11. The c.433G > T (p.G145W) mutation in the GJA8 gene was first reported to our best knowledge. The results of our study would further broaden the mutation spectrum of GJA8 associated with congenital cataract.

  12. the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50.

  13. 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).

  14. These results indicated that the mutant Cx50 (S276F) might inhibit the function of gap junction channel in a dominant negative manner, but inhibit the hemichannel function in a recessive negative manner.

  15. GJA8 mutation (p.V44A) is associated with autosomal dominant congenital cataract.

  16. This is a novel missense mutation [c.829C > T, (p.H277Y)] identified in exon 2 of Cx50.

  17. We have used trio-based exome sequencing to uncover a recurrent missense mutation in CRYGD and two novel missense mutations in GJA8 associated with autosomal dominant cataract in three nuclear families.

  18. Tthe molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns.

  19. A recurrent missense mutation c.773C>T (p.S258F) in exon 2 of the gap junction protein alpha 8 gene (GJA8) was identified in the proband with nuclear cataract.

  20. structural bases of the varied functional consequences of Cx50 missense mutations, were determined.

Gap Junction Protein, alpha 8, 50kDa (GJA8) Protein Überblick

Protein Überblick

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome.

Genbezeichner und Symbole assoziert mit GJA8

  • gap junction protein, alpha 8 (Gja8)
  • gap junction protein alpha 8 (GJA8)
  • Aey5 Protein
  • CAE Protein
  • CAE1 Protein
  • Cnx50 Protein
  • CTRCT1 Protein
  • Cx45.6 Protein
  • CX50 Protein
  • CZP1 Protein
  • Lop10 Protein
  • MP70 Protein

Bezeichner auf Proteinebene für GJA8

alpha 8 connexin , connexin-50 , gap junction alpha-8 protein , gap junction membrane channel protein alpha 8 , lens fiber protein MP70 , lens opacity 10 , connexin 50 , cell surface glycoprotein , gap junction membrane channel protein alpha-8 , lens intrinsic membrane protein MP70 , connexin 45.6 , connexin-45.6 , MP38 , MP64 , connexin-49 , cx49

GENE ID SPEZIES
14616 Mus musculus
29601 Rattus norvegicus
2703 Homo sapiens
395846 Gallus gallus
100170231 Ovis aries
483156 Canis lupus familiaris
524042 Bos taurus
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