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

TULP1 Antibody

  • 中文名稱:
    TULP1兔多克隆抗體
  • 貨號:
    CSB-PA025346GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    TULP1
  • 別名:
    RP14 antibody; Tubby like protein 1 antibody; Tubby related protein 1 (Tubby like protein 1) antibody; Tubby related protein 1 antibody; Tubby-like protein 1 antibody; Tubby-related protein 1 antibody; TUBL1 antibody; TULP 1 antibody; Tulp1 antibody; TULP1_HUMAN antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human TULP1
  • 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. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC,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 normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells. Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.
  • 基因功能參考文獻:
    1. Pathogenic mutations in TULP1 are responsible for the retinitis pigmentosa phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. PMID: 27440997
    2. photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response PMID: 26987071
    3. This study highlights the value of the broad sequencing strategy of exome sequencing for disease gene identification in Leber congenital amaurosis, over other existing methods. PMID: 24547928
    4. Data suggest that mutant tubby like protein 1 (TULP1) proteins are misfolded and accumulate within the endoplasmic reticulum (ER) leading to induction of the unfolded protein response (UPR) stress response complex. PMID: 26427415
    5. The TULP1 allele p.Gln301* represents a founder mutation on the Arabian Peninsula and is associated with a recognisable congenital recessive rod-cone dystrophy phenotype in the homozygous state. PMID: 25342276
    6. Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages which are less sensitive than expected from the residual structure. PMID: 25074776
    7. Maternal uniparental isodisomy of chromosome 6 unmasked a mutation in the TULP1 gene as a novel cause of cone dysfunction. PMID: 23499059
    8. The single nucleotide polymorphisms rs4374383 and rs9380516 were linked to the functionally related genes MERTK and TULP1, which encode factors involved in phagocytosis of apoptotic cells by macrophages. PMID: 22841784
    9. One recurrent (c.1138A>G; p.Thr380Ala) and one novel (c.1445G>A; p.Arg482Gln) mutations in TULP1 have been identified in Pakistani families with early-onset retinitis pigmentosa. PMID: 22665969
    10. Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a missense mutation in TULP1. PMID: 22605927
    11. Pathogenic mutations in TULP1 are responsible for the autosomal recessive retinitis pigmentosa phenotype in these consanguineous Pakistani families, with a single ancestral mutation in TULP1 causing the disease phenotype in 4 of 5 families. PMID: 21987678
    12. The affected members of the Surinamese family have a severe early-onset form of autosomal recessive retinitis pigmentosa, which is caused by compound heterozygous mutations in the TULP1 gene. PMID: 17620573
    13. Mutation in the TULP1 gene is a rare cause of LCA/EORD (Leber congenital amaurosis or early-onset retinal degeneration. PMID: 17962469
    14. A novel splice-site mutation of TULP1, c.1495+2_1495+3insT, underlying autosomal recessive early-onset RP in a consanguineous Israeli Muslim Arab family. PMID: 18432314

    顯示更多

    收起更多

  • 相關疾病:
    Retinitis pigmentosa 14 (RP14); Leber congenital amaurosis 15 (LCA15)
  • 亞細胞定位:
    Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted. Cell junction, synapse.
  • 蛋白家族:
    TUB family
  • 組織特異性:
    Retina-specific.
  • 數據庫鏈接:

    HGNC: 12423

    OMIM: 600132

    KEGG: hsa:7287

    STRING: 9606.ENSP00000229771

    UniGene: Hs.485208



主站蜘蛛池模板: 国产疯狂伦交大片| 少妇av射精精品蜜桃专区| 亚洲国产精品无码观看久久| 内射合集对白在线| 中文字幕精品久久久久人妻| 欧美另类videossexo高潮| 又色又爽又黄的视频软件app| 亚洲男人的天堂在线播放| 久久精品国产99国产精品亚洲| 日本一卡二卡不卡视频查询| 欧美 丝袜 自拍 制服 另类| 国产精品久久久久不卡绿巨人| 亚洲成a人片在线观看无码下载| 熟睡人妻被讨厌的公侵犯深田咏美| 69精品国产久热在线观看| 国内精品久久久久影视老司机| 国产精品主播一区二区三区| 久久亚洲人成电影网| 亚洲午夜精品a片一区二区app| 亚洲综合另类小说专区| 免费毛儿一区二区十八岁| 亚洲色欲色欲www在线丝| 影音先锋人妻啪啪av资源网站| 久久久国产精品亚洲一区| 欧美巨大xxxx做受高清| 国产成人影院一区二区三区| 伊人久久大香线蕉综合5g| 肥白大屁股bbwbbwhd| 欧美又黄又大又爽a片三年片| 久久精品国产一区二区电影| 久9视频这里只有精品| 久久人人爽人人爽人人片| 中文中幕a在线| 奇米在线7777在线精品| 国产精品国产三级国av在线观看 | 欧美黑人又粗又大高潮喷水| 国产亚洲精久久久久久无码77777| 西西人体扒开下部试看120秒 | 天堂资源在线www中文| 一本久久综合亚洲鲁鲁五月天| 人人狠狠综合久久88成人|