Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
GJB4 encodes a transmembrane connexin protein that is a component of gap junctions. Zusätzlich bieten wir Ihnen Gap Junction Protein, beta 4, 30.3kDa Antikörper (40) und Gap Junction Protein, beta 4, 30.3kDa Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
Cx30 (zeige GJB6 ELISA Kits) regulates cell adhesion and migration; its modulation of glutamate (zeige GRIN1 ELISA Kits) 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 (zeige GJB3 ELISA Kits) 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 (zeige GJB3 ELISA Kits) 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