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GJA8 encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. Additionally we are shipping Gap Junction Protein, alpha 8, 50kDa Antibodies (61) and many more products for this protein.
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These results suggest that expression of Cx50D47A induces ER stress, triggering activation of the PERK (show EIF2AK3 Proteins)-ATF4 (show ATF4 Proteins) pathway, which potentially contributes to the lens pathology and leads to increased expression of anti-apoptotic factors, allowing cell survival.
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
data show that expression and phosphorylation of Cx46 (show GJA3 Proteins) and Cx50 are complementary in seminiferous tubules
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
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.
The Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 (show GJA3 Proteins) to cause cataracts, small lenses and microphthalmia.
D3 residue plays an essential role in unitary conductance of Cx50 gap junction channels
Normal Cx50 function requires an intact PDZ domain-binding motif.
These results showed that the binding of calcium/calmodulin to the intracellular loop of connexin 50 (Cx50) is critical for mediating the Ca2 (show CA2 Proteins)+-dependent inhibition of Cx50 gap junctions
Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 gene.
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.
GJA8 is the newly identified genetic cause of familial congenital cataract.
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.
Study identified two novel missense mutations within P59 (show FKBP4 Proteins) 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 (show BLZF1 Proteins) accumulation, whereas the Cx50P59A mutation was found inefficient at forming detectable plaques.
The novel insert mutation in the TM2 (show TPM2 Proteins) 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.
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
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.
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.
the role of the charged residues at the end of TM-1 in voltage sensing in Cx26 (show GJB2 Proteins), Cx46 (show GJA3 Proteins), and Cx50.
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 (show GJA3 Proteins) and c.268 C > T in GJA3 (show GJA3 Proteins)), one was previously reported (c.218 C > T in GJA8).
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.
alpha 8 connexin
, 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