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Gap junction protein, beta 4, 30.3kDa

Cx30.3, GJB4, connexin 30.3
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. [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: GJB6, Cx31, GAP, Cx26, Connexin 43
Papers on Cx30.3
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.
Schmitz et al., Regensburg, Germany. In Eur Arch Otorhinolaryngol, Oct 2015
To assess a higher mutation detection rate in individuals with hearing loss a three-step mutation screening program consisting of GJB2 in first line, then GJB1, GJB3 and GJB6 (second step) and if tested negative or heterozygote, testing of GJA1, GJB4, SLC26A4 and PJVK (third) was performed.
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
McGrath et al., Nagoya, Japan. In Clin Exp Dermatol, Oct 2015
No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family.
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.
Hovnanian et al., Paris, France. In J Invest Dermatol, Jun 2015
Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively.
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.
Huang et al., Taipei, Taiwan. In Int J Pediatr Otorhinolaryngol, Apr 2015
OBJECTIVE: To investigate the association of eight connexin genes (GJB2, GJB4, GJA1P1, GJB6, GJB3, GJA1, GJB1, and GJC3) and the SLC26A4 gene with congenital hearing impairment among infants in a universal newborn hearing screening program.
Exogenous exposure to estradiol benzoate or flutamide at the weaning age alters expression of connexin isoforms in the initial segment of male rat.
Lee, Taejŏn, South Korea. In Dev Reprod, Mar 2015
Increased levels of Cx30.3 and Cx40 transcripts were observed with a low-dose Flu (500 μg/kg body weight) treatment.
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Yang et al., T'ai-chung-shih, Taiwan. In Mol Med Report, 2015
However, few studies have investigated the correlation between variants in the gap junction β4 (GJB4) gene and phenotype in patients with nonsyndromic hearing loss.
Expressional Modulation of Connexin Isoforms in the Initial Segment of Male Rat treated with Estradiol Benzoate or Flutamide.
Lee, Taejŏn, South Korea. In Dev Reprod, 2014
Treatment of EB at 0.015 μg/kg body weight (BW) increased expression of Cx30.3, 31.1, and 43 genes.
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.
Zhang et al., Hefei, China. In Int J Dermatol, 2014
The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation.
The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear.
Yang et al., T'ai-chung-shih, Taiwan. In Hear Res, 2014
In this study, using bioinformatics, we found that two zebrafish cx genes, cx27.5 and cx30.3, are likely homologous to human and mouse GJB2.
Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.
Hashemzadeh-Chaleshtori et al., Tehrān, Iran. In Int J Pediatr Otorhinolaryngol, 2013
Mutations in GJB4, GJA1, and GJC3 encoding Cx30.3,
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Zhang et al., In J Dermatol, 2012
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
Katsarou et al., Athens, Greece. In Eur J Dermatol, 2012
Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation.
Key functions for gap junctions in skin and hearing.
Kelsell et al., London, United Kingdom. In Biochem J, 2011
In the present review we discuss mutations in β-Cx genes encoding Cx26, Cx30, Cx30.3 and Cx31 which lead to skin disease and deafness.
Expression of connexins and the effect of retinoic acid in oral keratinocytes.
Takeda et al., Japan. In J Oral Sci, 2011
RT-PCR revealed that GE1 cells expressed mRNA for Cx26, Cx30.3, Cx31.1, Cx32, and Cx43.
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
Deng et al., Guangzhou, China. In Clin Exp Dermatol, 2011
There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
Novel expression patterns of connexin 30.3 in adult rat cochlea.
Li et al., Taiwan. In Hear Res, 2010
Results indicate the presence and localization of Cx30.3 in the rat cochlea.
Connexins and the kidney.
Peti-Peterdi et al., Los Angeles, United States. In Am J Physiol Regul Integr Comp Physiol, 2010
In the distal nephron, Cx30, Cx30.3, and Cx37 are expressed, but it is not known whether they form gap junctions connecting neighboring cells or whether they primarily act as hemichannels.
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
van Geel et al., Maastricht, Netherlands. In Am J Med Genet A, 2009
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).
The vertebrate connexin family.
Mikalsen et al., Oslo, Norway. In Cell Mol Life Sci, 2006
Otherwise, the differences between fishes and mammals can be explained by two gene losses (Cx39.9 and Cx43.4) after the divergence of the Reptilia, and three gene duplications (the generation of Cx26 and 30 from a preCx26/30 sequence, Cx30.3 and 31.1 from a preCx30.3/
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