GJB3 Antibody

1. 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 . PMID: 29926981
2. 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 PMID: 29106878
3. 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. PMID: 27176802
4. 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 PMID: 26251042
5. 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 PMID: 25556823
6. The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss. PMID: 24913888
7. In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
8. mutations prevalent in hearing loss patients PMID: 23638949
9. We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family. PMID: 22681493
10. GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss. PMID: 22617145
11. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
12. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death PMID: 22393412
13. A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations. PMID: 21916817
14. GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people. PMID: 21055240
15. There were no mutations found in the GJB3 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
16. endoplasmic reticulum stress leading to the unfolded protein response is the main mechanism of mutant Cx31-associated cell death. PMID: 19755382
17. a homozygote mutation in the connexin 31 gene, found in a family that shows recessive inheritance of the disorder, thus providing the first molecular support for a recessive variant of erythrokeratodermia variabilis PMID: 12019212
18. Connexin 31 mutation is associated with defective trafficking and cell death in skin disease PMID: 12165562
19. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells PMID: 12176042
20. pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment PMID: 12630965
21. effects of sequence variants G12D and R32W on Cx31 biogenesis and gap junction activity PMID: 12702148
22. These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes. PMID: 14583444
23. In summary, disease-associated Cx31 mutants impair the formation of normal gap junctions at different levels. PMID: 16077902
24. Not all clincally diagnosed inviduals with erythrokeratoderma variabilis harbor Cx31 disease-associated mutations. PMID: 16297190
25. provide an important first step in evaluating the pathogenesis of inherited human diseases associated with mutations in the gene for Cx31 PMID: 16549784

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HGNC: 4285

OMIM: 133200

KEGG: hsa:2707

STRING: 9606.ENSP00000362460

UniGene: Hs.522561