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Gap junction protein, beta 3, 31kDa

Cx31, GJB3, connexin 31
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Cx26, GAP, GJB6, PGD2, CAN
Papers on Cx31
Deafness gene mutations in newborns in Beijing.
New
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).
Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss.
New
Chen et al., Chongqing, China. In Mol Med Report, Dec 2015
Deafness gene mutations were detected in 22 cases, among which the detection rates of GJB2, mitochondrial 12S ribosomal ribonucleic acid and SLC26A4 mutations were 23.73% (14/59), 10.17% (6/59) and 5.08% (3/59), respectively, while no GJB3 mutation was detected.
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
New
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.
Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.
New
Yao et al., Handan, China. In Clin Exp Otorhinolaryngol, Sep 2015
The newborn genetic screening targeted four deafness-associated genes, which were commonly found in the Chinese population including gap junction beta-2 protein (GJB2), gap junction beta-3 protein (GJB3), solute carrier family 26 member 4 (SLC26A4), and mtDNA 12S rRNA.
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.
New
Feng et al., Shijiazhuang, China. In Intractable Rare Dis Res, Aug 2015
The current work summarizes mutations in the GJB2, SLC26A4, 12SrRNA, and GJB3 and their prevalence in 318 students with autosomal recessive nonsyndromic hearing loss at schools for the deaf or special needs schools in 9 cities in Hebei Province, China.
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
New
Wu et al., Taipei, Taiwan. In Medicine (baltimore), Jul 2015
Mutations in the WFS1, GJB3, ESRRB, LRTOMT, MYO3A, and POU3F4 genes were detected in 7 (23%) of the 30 matched controls.
[Study of newborn hearing and genetic screening in Jinan].
New
Liu et al., Jinan, China. In Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, May 2015
Nine mutations [GJB2 (235delC, 35delG, 299delAT, 176del16), SLC26A4 (IVS7-2A>G,2168 A>G), GJB3 (538 C>T), 12SrRNA (1555 A>G, 1494C>T)] of 4 frequent genes associated with Chinese hearing loss were determined by gene chip in these dried blood samples.
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Review
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.
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.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Review
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
GeneRIF
Zhang et al., In J Dermatol, 2012
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
GeneRIF
Franzè et al., Napoli, Italy. In Int J Audiol, 2011
A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations.
Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
GeneRIF
Zhang et al., Changsha, China. In Plos One, 2011
Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
GeneRIF
Deng et al., Guangzhou, China. In Clin Exp Dermatol, 2011
There were no mutations found in the GJB3 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
[Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].
GeneRIF
Zou et al., Ürümqi, China. In Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2010
GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people.
[Genes of connexin proteins participating in sound perception].
Review
Khusnutdinova et al., In Vestn Otorinolaringol, 2005
Definite association of hereditary deafness and mutational alterations in genes of connexins 26, 30 and 31 shows high informative value of molecular-genetic methods which diagnose hereditary deafness, carriage of mutations in GJB2, GJB3 and GJB6 genes, provide definite probability of the disease in medico-genetic consulting.
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Review
Fellinger et al., Vienna, Austria. In Int J Pediatr Otorhinolaryngol, 2005
Mutations in a single gene may not only cause autosomal dominant, nonsyndromic HIH, but also autosomal recessive, nonsyndromic HIH (GJB2, GJB6, MYO6, MYO7A, TECTA, TMC1), and even syndromic HIH (CDH23, COL11A2, DPP1, DSPP, GJB2, GJB3, GJB6, MYO7A, MYH9, PCDH15, POU3F4, SLC26A4, USH1C, WFS1).
Deafness genes for nonsyndromic hearing loss and current studies in China.
Review
Xie et al., Changsha, China. In Chin Med J (engl), 2002
The GJB3 gene, which is associated with high-frequency hearing impairment, was cloned in a Chinese laboratory.
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
Impact
Huang et al., Changsha, China. In Nat Genet, 1998
To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Impact
Bale et al., Bethesda, United States. In Nat Genet, 1998
After initial linkage to the RH locus on 1p, EKV was mapped to an interval of 2.6 cM on 1p34-p35, and a candidate gene (GJA4) encoding the gap junction protein alpha-4 (connexin 31, Cx31) was excluded by sequence analysis.
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