在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

GJB3 Antibody

  • 中文名稱:
    GJB3兔多克隆抗體
  • 貨號:
    CSB-PA943355
  • 規(guī)格:
    ¥1100
  • 圖片:
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA943355(GJB3 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • Gel: 10%SDS-PAGE, Lysate: 40 μg, Lane: Mouse brain tissue, Primary antibody: CSB-PA943355(GJB3 Antibody) at dilution 1/700, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    GJB3
  • 別名:
    GJB3; CX31; Gap junction beta-3 protein; Connexin-31; Cx31
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human,Mouse
  • 免疫原:
    Synthetic peptide of Human GJB3
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen affinity purification
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB,IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    ELISA 1:1000-1:5000
    WB 1:500-1:2000
    IHC 1:25-1:100
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    1. The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation . PMID: 29926981
    2. GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant PMID: 29106878
    3. The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 and GJB3 genes. PMID: 27176802
    4. study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease PMID: 26251042
    5. identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL PMID: 25556823
    6. The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss. PMID: 24913888
    7. In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
    8. mutations prevalent in hearing loss patients PMID: 23638949
    9. We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family. PMID: 22681493
    10. GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss. PMID: 22617145
    11. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
    12. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death PMID: 22393412
    13. A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations. PMID: 21916817
    14. GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people. PMID: 21055240
    15. There were no mutations found in the GJB3 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
    16. endoplasmic reticulum stress leading to the unfolded protein response is the main mechanism of mutant Cx31-associated cell death. PMID: 19755382
    17. a homozygote mutation in the connexin 31 gene, found in a family that shows recessive inheritance of the disorder, thus providing the first molecular support for a recessive variant of erythrokeratodermia variabilis PMID: 12019212
    18. Connexin 31 mutation is associated with defective trafficking and cell death in skin disease PMID: 12165562
    19. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells PMID: 12176042
    20. pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment PMID: 12630965
    21. effects of sequence variants G12D and R32W on Cx31 biogenesis and gap junction activity PMID: 12702148
    22. These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes. PMID: 14583444
    23. In summary, disease-associated Cx31 mutants impair the formation of normal gap junctions at different levels. PMID: 16077902
    24. Not all clincally diagnosed inviduals with erythrokeratoderma variabilis harbor Cx31 disease-associated mutations. PMID: 16297190
    25. provide an important first step in evaluating the pathogenesis of inherited human diseases associated with mutations in the gene for Cx31 PMID: 16549784

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Erythrokeratodermia variabilis et progressiva 1 (EKVP1); Deafness, autosomal dominant, 2B (DFNA2B)
  • 亞細(xì)胞定位:
    Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
  • 蛋白家族:
    Connexin family, Beta-type (group I) subfamily
  • 數(shù)據(jù)庫鏈接:

    HGNC: 4285

    OMIM: 133200

    KEGG: hsa:2707

    STRING: 9606.ENSP00000362460

    UniGene: Hs.522561



主站蜘蛛池模板: 亚洲视频一区| 亚洲成a人片在线观看天堂 | 国产欧美日韩久久久久| 亚洲色素色无码专区| 日韩国产人妻一区二区三区| 苍井空浴缸大战猛男120分钟| 人妻丰满熟妇av无码区不卡 | 亚洲午夜成人精品无码app| 久久综合国产乱子伦精品免费| 五月天精品视频在线观看| 国产熟妇按摩3p高潮大叫| 92久久精品一区二区| 亚洲欧美日本国产专区一区| 五月丁香啪啪激情综合色九色| 天天爽天天爽天天片a| 69综合精品国产二区无码| 国内少妇毛片视频| 大肉大捧一进一出好爽动态图| 精品婷婷色一区二区三区| 中文字幕免费无码专区| 无码日韩精品一区二区免费暖暖| 黄页网址大全免费观看| 爆爽久久久一区二区又大又黄又嫩| 五月丁香综合缴情六月小说| 亚洲人成手机电影网站| 无码av永久免费专区麻豆| 日日碰狠狠添天天爽| 色翁荡息又大又硬又粗又爽| 欧美激情一区二区成人| 成人免费无码大片a毛片户外 | 真实国产老熟女无套中出| 亚洲精品成人无码中文毛片| 国产麻豆精品传媒av国产婷婷| 免费无码黄十八禁网站在线观看 | 四虎国产精品永久在线无码| 天干夜天天夜天干天2004年| 情侣作爱视频网站| 人妻激情偷乱一区二区三区| 亚洲一区天堂九一| 天天爽夜夜爽人人爽免费| 深夜福利视频在线播放|