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GJB4 encodes a transmembrane connexin protein that is a component of gap junctions. Additionally we are shipping Gap Junction Protein, beta 4, 30.3kDa Antibodies (38) and many more products for this protein.
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Cx30 (show GJB6 Proteins) regulates cell adhesion and migration; its modulation of glutamate (show GRIN1 Proteins) transport occurs independently of its channel function and is mediated by morphological changes controlling insertion of astroglial processes into synaptic clefts.
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.
In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families.
Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene.
Mutation analysis of GJB3 (show GJB3 Proteins) and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation.
There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
the involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis
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 (show GJB3 Proteins) phenotypes.
Not all clinically diagnosed individuals with erythrokeratoderma variabilis harbor Cx30.3 disease-associated mutations.
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment.
gap junction protein, beta 4, 30.3kDa
, gap junction beta-4 protein
, gap junction membrane channel protein beta 4
, connexin 30.3