GJC3 Antibody

1. Based on these findings, we suggest that p.W77S mutant has a dominant negative effect on the formation and function of the gap junction. These results give a novel molecular elucidation for the mutation of GJC3 in the development of hearing loss. PMID: 28367085
2. Although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss. PMID: 23179405
3. The connexin30.2/CX31.3 shares functional properties with pannexin (hemi) channels rather than gap junction channels of other Connexins. PMID: 21480002
4. Mutations in the Cx29 gene do not play a role in the causation of non syndromic hearing impairment in Indian population. PMID: 20632892
5. Observational study of gene-disease association. (HuGE Navigator) PMID: 20593197
6. Observational study of gene-disease association. (HuGE Navigator) PMID: 20632892
7. We suggest that the c.[43C-->G(+)230G-->C] compound heterozygous variant of Cx29 may be a risk factor for the development of hearing loss in Taiwanese. PMID: 19657183
8. Data show that the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum rather than in the cytoplasmic membrane. PMID: 19876648
9. Cx31.3 is localized to the gray matter along small myelinated fibers and is co-expressed with Cx32 in oligodendrocytes. PMID: 18353664

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HGNC: 17495

OMIM: 611925

KEGG: hsa:349149

STRING: 9606.ENSP00000325775

UniGene: Hs.647524