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

TMEM67 Antibody

  • 中文名稱:
    TMEM67兔多克隆抗體
  • 貨號:
    CSB-PA023871GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    TMEM67
  • 別名:
    TMEM67 antibody; MKS3 antibody; Meckelin antibody; Meckel syndrome type 3 protein antibody; Transmembrane protein 67 antibody
  • 反應種屬:
    Human
  • 免疫原:
    Human TMEM67
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20oC, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,IF
  • 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.

產品評價

靶點詳情

  • 功能:
    Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
  • 基因功能參考文獻:
    1. The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. PMID: 28719906
    2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
    3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
    4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
    5. mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates PMID: 20232449
    6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
    7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
    8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
    9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
    10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
    11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
    12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969

    顯示更多

    收起更多

  • 相關疾病:
    Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)
  • 亞細胞定位:
    Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
  • 組織特異性:
    Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
  • 數據庫鏈接:

    HGNC: 28396

    OMIM: 209900

    KEGG: hsa:91147

    STRING: 9606.ENSP00000389998

    UniGene: Hs.116240



主站蜘蛛池模板: 婷婷成人丁香五月综合激情| 国产人与zoxxxx另类| 特黄做受又粗又大又硬老头| 中文字幕无码精品亚洲35| 四房播播开心五月| 狠狠色噜噜狠狠狠狠888奇禾| 国内一区二区三区香蕉aⅴ| 日韩中文字幕在线专区| 伊人久久精品一区二区三区| 亚洲妓女综合网99| 亚洲精品国产精品无码国模| 三级无码在钱av无码在钱| 国产玉足榨精视频在线观看| 亚洲人成色7777在线观看| 国产精品一区二区av蜜芽| 成 人 a v免费视频在线观看 | 最近免费中文字幕大全免费版视频| 国产精品人成视频国模| 99精品国产福利一区二区| 无码超乳爆乳中文字幕| 欧美成人精品高清视频在线观看| www亚洲精品久久久乳| 国产免费福利在线视频| 精品欧美成人高清在线观看| 欧美乱大交xxxxx潮喷l头像| 呦男呦女视频精品八区| 人妻老妇乱子伦精品无码专区| 男女高潮激烈免费观看| 一本一道波多野结衣av一区| 婷婷色中文字幕综合在线| 成人啪精品视频网站午夜| 精品无码久久久久国产| 无码av无码天堂资源网| 色一情一伦一区二区三| 天堂av无码av在线a√| 国产亚洲精久久久久久无码苍井空| 国内精品伊人久久久久av| 国产午夜精品一二区理论影院| 妺妺窝人体色www聚色窝| 伊人色综合久久天天| 午夜男女爽爽影院免费视频 |