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  4. Recombinant Human Gap junction beta-6 protein (GJB6)

Recombinant Human Gap junction beta-6 protein (GJB6)

  • 货号：
    CSB-CF009456HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    GJB6
  • Uniprot No.：
  • 别名：
    GJB6; Gap junction beta-6 protein; Connexin-30; Cx30
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-261
  • 氨基酸序列
    MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
  • 基因功能参考文献：
    1. results showed the A88V and G11R mutants of GJB6 may activate the downstream execution factor, caspase-3, through the extrinsic apoptotic pathway mediated by caspase-8 and the intrinsic apoptotic pathway mediated by caspase-9; study provides further clarification on mechanisms underlying the effect of mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis PMID: 30043857
    2. Investigation of stemness-related CD133 and cMyc in human samples and rat xenografts exhibited a reciprocal relationship between Cx30 and IGF-1R in the low and high grades (HG) of glioma. Cx30 was completely abolished in HG; levels of IGF-1R, CD133 and cMyc expression were positively correlated with HG. Cx30 transfection could attenuate the malignant burden of glioma in rat xenografts. PMID: 28875331
    3. Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness. PMID: 29106882
    4. data reveals that a recurrent mutation p.A88V in GJB6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder PMID: 27137747
    5. Cx26 and Cx30 proteins thus seem not to be co-expressed but to form closely associated assemblies of gap junction plaques. PMID: 26941236
    6. del(GJB6-D13S1854) was highly prevalent in this sample of deaf Syrian families. PMID: 28012540
    7. identification and functional characterization of a new Cx30 mutation in a family with hearing impairment in association with previously unreported skin anomalies PMID: 26620415
    8. Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment. PMID: 25989237
    9. results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans. PMID: 26075227
    10. found that connexin 26 (Cx26) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 GJs remain persistently immobile for more than 2 min after bleaching PMID: 26265468
    11. GJB6 deletions were not detected. PMID: 25288386
    12. An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India. PMID: 26188157
    13. Results show high mRNA and protein levels for Cx43 and Cx30 in breast cancer but they are correlated with improved and bad outcome respectively suggesting that they may serve as prognostic markers in breast cancer. PMID: 25383624
    14. Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans PMID: 26046157
    15. study found A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for hidrotic ectodermal dysplasia in Chinese population PMID: 23981984
    16. A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized. PMID: 25715449
    17. Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa. there is no sufficient evidence to support their testing in a clinical setting for individuals of African ancestry. PMID: 24785695
    18. We found a great variety of mutations depending on the analyzed region in patients with SNHL; 57.86% of patients had affection in one or two alleles in GJB2 or GJB6 genes whereas 42.14% were wild-type. In some cases, allele distribution depended on region PMID: 24774219
    19. In a cohort of Slovakian cochlear implant users, GJB6 deletion delD13S1830 was identified in only one subject of 131, in double heterozygosity with a GJB6 mutation. PMID: 23700267
    20. In a cohort of patients with mild to profound autosomal recessive sensorineural hypoacusis, 1% exhibited compound heterozygosis for GJB6-D13S1830 deletion and 35delG/GJB2. PMID: 23553242
    21. None of the most common types of deletions in the GJB2 gene (c.35delG, c.167delT or c.235delC) were found in this large cohort of deaf children from Uganda PMID: 24706568
    22. GJB2 mutation is not a significant gene in patients diagnosed with hearing loss in subsaharan Africa. PMID: 21392827
    23. increased expression in Dupuytren's disease PMID: 24359029
    24. Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied PMID: 23684175
    25. Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia in 24 year old Japanese female PMID: 23863883
    26. these results showed thatc.35delG is the most common but not the only GJB2 mutation and that the del(GJB6-del D13S1830) is absent in our cohort. PMID: 23434199
    27. We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. PMID: 23219093
    28. In this work, the screening of 77 patients did not reveal the delGJB6-D13S1830 mutation and our results cannot suggest risk of hearing impairment due to this mutation in our population. PMID: 23503914
    29. the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected. PMID: 23171692
    30. Genetic analyses of the GJB2 and GJB6 genes indicated that similar pathological genotypes, occurring with similar frequencies, may be responsible for both progressive and non-progressive hearing loss. PMID: 22704424
    31. GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss. PMID: 22617145
    32. Twenty subjects (59%) had a family history of HL, with 26% specifically reporting familial unilateral HL. Mutational screening revealed sequence variants in the GJB2, GJB3, TECTA, and COCH genes. Two novel mutations were detected in COCH and TECTA. PMID: 22534022
    33. in Cx30, positively charged Glu49 residues establish a potential barrier within the fully open channel PMID: 22292956
    34. GJB6 del(GJB6-D13S1830) mutation was not detected in any of Non-syndromic hearing loss samples PMID: 22281373
    35. Study found no mutations in GJB6 or POU3F4 in nonsyndromic Tibetan Chinese patients with hearing impairment. PMID: 22389666
    36. GJB6 deletion and A1555G mutation account for a minor proportion of nonsyndromic sensorineural hearing loss in the Qatari population PMID: 22103400
    37. GJB6 mutations is not a common cause of sensorineural hearing loss among chinese population. PMID: 22186156
    38. A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations. PMID: 21916817
    39. study concludes the hearing loss in probands with the del(GJB6-D13S1854) deletion (and a heterozygous mutation in GJB2) results from a lack of functional Cx26 protein; results are supportive of presence of GJB2 cis-regulatory element(s) upstream GJB6 PMID: 21738759
    40. All students with association GJB2 mutation and GJB6 showed severe to profound hearing loss in both ears. PMID: 22106692
    41. The p.A40V mutation in CX30 causes autosomal-dominant nonsyndromic hearing loss. PMID: 21731760
    42. mutations in the GJB6 gene are unlikely to be a major cause of non-syndromic deafness in Asian Indians PMID: 21227513
    43. Some GJB2, GJB3, and GJB6 mutations occurred in deaf students. PMID: 18338563
    44. Heterozygote mutation carriers had less hearing impairment, but most other factors demonstrated no differences. These results support the theory of an unidentified genetic factor contributing to hearing loss in some heterozygote carriers. PMID: 21287563
    45. analysis of GJB2 and GJB6 mutations in Southeastern Brazilians with hereditary nonsyndromic deafness PMID: 20563649
    46. Mutation of GJB6 gene is infrequent in the Chinese non-syndromic hearing-loss population. PMID: 17438853
    47. The frequency of 35delG/GJB2 and del (D13S1830/GJB6) alleles in patients with-non-syndromic deafness was 7.8% and 0.65%, respectively. PMID: 20835527
    48. The generation and characterization of a mouse model for human bilateral middle/high-frequency hearing loss based on the substitution of an evolutionarily conserved threonine by a methionine at position 5 near the N-terminus of Cx30, is described. PMID: 20858605
    49. These results indicate that the expression of connexin 30 is a novel differentiation marker mediating the biological behavior of intestinal phenotype gastric cancer. PMID: 21116114
    50. GJB6-associated deafness was correlated with better oral outcomes in Portuguese cochlear implant users PMID: 20650534

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  • 相关疾病：
    Ectodermal dysplasia 2, Clouston type (ECTD2); Deafness, autosomal recessive, 1B (DFNB1B); Deafness, autosomal dominant, 3B (DFNA3B)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
  • 蛋白家族：
    Connexin family, Beta-type (group I) subfamily
  • 数据库链接：

    HGNC: 4288

    OMIM: 129500

    KEGG: hsa:10804

    STRING: 9606.ENSP00000241124

    UniGene: Hs.511757