GJB4 Antibody

1. GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4. PMID: 25333454
2. In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
3. Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene. PMID: 23037955
4. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
5. Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation. PMID: 22266302
6. There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
7. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families PMID: 11933201
8. the involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis PMID: 12648223
9. 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
10. Not all clinically diagnosed individuals with erythrokeratoderma variabilis harbor Cx30.3 disease-associated mutations. PMID: 16297190
11. Five patients with erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). PMID: 19291775

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HGNC: 4286

OMIM: 605425

KEGG: hsa:127534

STRING: 9606.ENSP00000345868

UniGene: Hs.351203