gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Gap junction protein, beta 6, 30kDa

GJB6, Cx30, connexin 30
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Cx26, GAP, HAD, CAN, Cx31
Papers on GJB6
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
Martínez et al., Valparaíso, Chile. In J Invest Dermatol, Feb 2016
KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Amr et al., Boston, United States. In Hum Mutat, Jan 2016
Pathogenic variants at the DFNB1 locus encompassing the GJB2 and GJB6 genes account for 50% of autosomal-recessive, congenital nonsyndromic hearing loss in the United States.
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
Anand et al., Bengaluru, India. In Ann Hum Genet, Jan 2016
Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss.
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
Giardina et al., Roma, Italy. In Electrophoresis, Jan 2016
Approximately 1:2500 children with NSHL carries mutations in the GJB2 and GJB6 (13q12) genes, which code for connexin 26 (Cx26) and connexin 30 (Cx30), respectively.
Astroglial networks promote neuronal coordination.
Rouach et al., Paris, France. In Sci Signal, Dec 2015
Although the gap junction subunits connexin 30 and connexin 43 mediate the formation of extensive astroglial networks that cover large functional neuronal territories, their role in neuronal synchronization remains unknown.
Cx30 exhibits unique characteristics including a long half-life when assembled into gap junctions.
Laird et al., London, Canada. In J Cell Sci, Dec 2015
In the present study we investigated the life cycle, trafficking, assembly and cell surface dynamics of a poorly characterized connexin family member, connexin 30 (Cx30; also known as GJB6), which plays a critical role in skin health and hearing.
Abnormal connexin expression in human chronic wounds.
Becker et al., Auckland, New Zealand. In Br J Dermatol, Nov 2015
RESULTS: Epidermal connexin 43, connexin 26 and connexin 30, and dermal connexin 43 were discovered to be strikingly upregulated in every ulcer from all three wound types, pointing to connexin upregulation as a common feature between chronic wounds.
Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.
Salehi et al., Eşfahān, Iran. In Int J Pediatr Otorhinolaryngol, Nov 2015
OBJECTIVE: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran.
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.
Insights into the role of connexins in mammary gland morphogenesis and function.
Laird et al., London, Canada. In Reproduction, Jun 2015
These studies have revealed an important stage-specific role for Cx26 (GJA1) and Cx43 (GJB2), while Cx30 (GJB6) and Cx32 (Gjb1) can be eliminated without compromising the gland.
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
Forge et al., London, United Kingdom. In Cell Tissue Res, Jun 2015
Mutations in the connexin genes GJB2 and GJB6 (encoding CX26 and CX30) result in syndromic and non-syndromic deafness via various mechanisms.
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Choi et al., Seoul, South Korea. In J Transl Med, 2014
METHODS: From September 2010 to October 2014, children with severe-to-profound sporadic or arSNHL without phenotypic markers, and their families, were tested for mutations in connexins GJB2, GJB6 and GJB3.
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Wonkam et al., Cape Town, South Africa. In Pan Afr Med J, 2014
The second most common mutations are found in the connexin gene, GJB6, also with a high prevalence in patients of European descent.
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Zhao et al., Lexington, United States. In Front Cell Neurosci, 2014
Cx30 (GJB6), Cx29 (GJC3), Cx31 (GJB3), and Cx43 (GJA1) mutations can also cause hearing loss with distinct pathological changes in the cochlea.
Deletion of astroglial connexins weakens the blood-brain barrier.
Cohen-Salmon et al., Paris, France. In J Cereb Blood Flow Metab, 2012
These results demonstrate that astroglial connexins are necessary to maintain BBB integrity.
Panglial gap junctional communication is essential for maintenance of myelin in the CNS.
Willecke et al., Bonn, Germany. In J Neurosci, 2012
This study demonistrated that Cx30/Cx47 double-deficient mice has the functional role of both connexins for interastrocytic, interoligodendrocytic, and panglial coupling, and show that both connexins are required for maintenance of myelin.
Loss of astrocyte connexins 43 and 30 does not significantly alter susceptibility or severity of acute experimental autoimmune encephalomyelitis in mice.
Brosnan et al., United States. In J Neuroimmunol, 2012
Loss of Cx30 and the white matter pathology observed does not affect expression of experimental autoimmune encephalitis; astrocyte gap junctions do not regulate autoimmune inflammation.
Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics.
Mammano et al., Padova, Italy. In J Biomol Struct Dyn, 2011
in Cx30, positively charged Glu49 residues establish a potential barrier within the fully open channel
Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
Dai et al., Beijing, China. In Plos One, 2011
Study found no mutations in GJB6 or POU3F4 in nonsyndromic Tibetan Chinese patients with hearing impairment.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
Moreno et al., Madrid, Spain. In N Engl J Med, 2002
A 342-kb deletion in GJB6 is a cause prelingual deafness.
share on facebooktweetadd +1mail to friends