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Gap junction protein, beta 2, 26kDa

Cx26, connexin 26, GJB2, KID, HID
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: GAP, CAN, HAD, GJB6, PGD2
Papers using Cx26 antibodies
Cyclic stretch enhances gap junctional communication between osteoblastic cells
van Steensel Maurice A M et al., In The Journal of Investigative Dermatology, 1997
... GJB2 WT gene was cloned into the vectors peGFP-N1 (BD Biosciences, Breda, The Netherlands) and ...
Papers on Cx26
Deafness gene mutations in newborns in Beijing.
Ni et al., Beijing, China. In Acta Otolaryngol, Feb 2016
Study sample This study tested 37 573 newborns within 3 days after birth, including nine sites in four genes: GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), SLC26A4 (IVS7-2 A > G, 2168 A > G), MTRNR1 (1555 A > G, 1494 C > T), and GJB3 (538 C > T).
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Usami et al., Yokohama, Japan. In J Hum Genet, Feb 2016
We used the Invader assay for 46 mutations in 13 genes and Sanger sequencing for the GJB2 gene or SLC26A4 gene in the first-stage test, the TaqMan genotyping assay in the second-stage test and targeted exon sequencing using massively parallel DNA sequencing in the third-stage test.
Prevalence and Audiological Profiles of GJB2 Mutations in a Large Collective of Hearing Impaired Patients.
Lenarz et al., Hannover, Germany. In Hear Res, Feb 2016
UNASSIGNED: Mutations in the GJB2 gene are known to represent the commonest cause of hereditary and congenital hearing loss.
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.
Retamal et al., Buenos Aires, Argentina. In Pflugers Arch, Feb 2016
Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause.
Connexin channels in congenital skin disorders.
White et al., New Haven, United States. In Semin Cell Dev Biol, Feb 2016
In palmoplantar keratoderma with deafness, the connexin 26 mutations transdominantly alter the function of wild-type connexin 43 and create leaky heteromeric hemichannels.
Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis.
Xu et al., Nanjing, China. In Mol Med Report, Feb 2016
Mutation screening was performed by Sanger sequencing in GJB2, 12S rRNA, and the hot‑spot regions of SLC26A4.
Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.
Palumbos et al., Salt Lake City, United States. In Indian J Pediatr, Feb 2016
Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss.
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.
Genetics of Hearing Loss-Nonsyndromic.
Chang, Stanford, United States. In Otolaryngol Clin North Am, Dec 2015
Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL.
PPARγ: Welcoming the New Kid on the CML Stem Cell Block.
Shah et al., San Francisco, United States. In Cancer Cell, Nov 2015
Recently, chronic myeloid leukemia (CML) patients already responding to treatment showed improved molecular responses with pioglitazone, presumably through PPARγ activation and CML stem cell eradication.
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 most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin.
Temporal patterning of neuroblasts controls Notch-mediated cell survival through regulation of Hid or Reaper.
Desplan et al., East New York, United States. In Cell, 2014
Within a single lineage, intermediate precursors initially do not divide and generate only one neuron; subsequently, precursors divide, but their Notch(ON) progeny systematically die through Reaper activity, whereas later, their Notch(OFF) progeny die through Hid activity.
A large-scale screen for coding variants predisposing to psoriasis.
Zhang et al., Hefei, China. In Nat Genet, 2014
We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance.
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
van Steensel et al., Maastricht, Netherlands. In J Invest Dermatol, 2012
porokeratotic eccrine nevus may be caused by mosaic GJB2 mutations.
[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].
Li et al., Suzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012
Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC.
Cochlear implantation and congenital deafness: perceptive and lexical results in 2 genetically pediatric identified population.
Garabédian et al., Paris, France. In Otol Neurotol, 2012
After cochlear implantation, perceptive and linguistic evolutions for populations of GJB2 mutation and Waardenburg syndrome were of good quality, but lexical evaluation showed residual language difficulties in both groups.
Aberrant connexin 43 and 26 expression in cervical dysplasia.
Zhang et al., Philadelphia, United States. In Anal Quant Cytol Histol, 2012
In High-grade squamous intraepithelial lesions, Cx26 was expressed in the full thickness of the epithelium, at a high level in 80% of cases and a low level in the rest.
The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
Wu et al., Shanghai, China. In Plos One, 2011
p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal permanent childhood hearing impairment
Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
Zhang et al., Hefei, China. In Nat Genet, 2010
We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10⁻⁸) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10⁻²¹) in the European studies.
Structure of the connexin 26 gap junction channel at 3.5 A resolution.
Tsukihara et al., Suita, Japan. In Nature, 2009
X ray structure of connexin 26 gap junction channel at 3.5 A resolution.
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