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Human Polyclonal GJB3 Primary Antibody for IHC (p), ELISA - ABIN544542
Di, Monypenny, Common, Kennedy, Holland, Leigh, Rugg, Zicha, Kelsell: Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. in Human molecular genetics 2002
Show all 3 Pubmed References
Human Monoclonal GJB3 Primary Antibody for IF, ELISA - ABIN561044
Tattersall, Scott, Gray, Zicha, Kelsell: EKV mutant connexin 31 associated cell death is mediated by ER stress. in Human molecular genetics 2009
Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A
Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern.
GJB3 gene mutation was not involved with hearing loss in Shanghai area.
The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation .
Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G.
The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China
GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant
The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 and GJB3 genes.
study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease
identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL
Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness.
The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss.
In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families.
mutations prevalent in hearing loss patients
We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family.
GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss.
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death
A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations.
GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people.
Prostaglandin E stimulates Connexin isoforms via GSK-3beta/beta-catenin via EP2-receptor-dependent cAMP/PKA and PI3K/Akt in mouse embryonic stem cells.
Connexin 31-deficient trophoblast stem cells revealed a shift in giant cell differentiation from Prl3d1 expressing parietal giant cells to Ctsq, Prl3b1, and Prl2c2-positive giant cells.
Expression is regulated by distinct mechanisms in embryonic stem cells and keratinocytes.
Expression profile of the Gjb3 in the developing mouse cochlea
Mutant cx31 showed reduced phosphorylation levels compared to Cx31 wild type, indicating a pivotal role of serine residue 266 for Cx31 phosphorylation, but didn't interfere with correct intracellular trafficking of gap junction proteins.
During trophoblast cell lineage differentiation, the Cx31 gap junction channel is involved in maintaining the proliferative diploid trophoblast cell population.
Cx31/Cx43 double-deficient mice exhibit the known phenotypes of the single-knockout strains but no combined effects
Cx31 and Cx43 proteins functionally interact, possibly by forming heteromeric channels in the epidermis.
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.
, gap junction beta-3 protein
, gap junction membrane channel protein beta 3
, connexin 31 b
, gap junction protein, beta 3 b
, gap junction protein, beta 3, 31kDa
, gap junction beta 3