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DHDDS Antibody

  • 中文名稱:
    DHDDS兔多克隆抗體
  • 貨號:
    CSB-PA006845GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    DHDDS
  • 別名:
    DHDDS antibody; HDSDehydrodolichyl diphosphate synthase complex subunit DHDDS antibody; EC 2.5.1.87 antibody; Cis-isoprenyltransferase antibody; CIT antibody; Cis-IPTase antibody; Cis-prenyltransferase subunit hCIT antibody; Epididymis tissue protein Li 189m antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human DHDDS
  • 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 0.1% 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
  • 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:
    With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length. Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.
  • 基因功能參考文獻:
    1. Study describe a patient presenting with severe multisystem disease associated with DHDDS deficiency. As retinitis pigmentosa is the only clinical sign in previously reported cases, this report broadens the spectrum of phenotypes associated with this condition. PMID: 27343064
    2. findings show that eukaryotic cis-PT is composed of the NgBR and hCIT subunits. The strong conservation of the RXG motif among NgBR orthologs indicates that this subunit is critical for the synthesis of polyprenol diphosphates and cellular function. PMID: 28842490
    3. We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry PMID: 25255364
    4. A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin. PMID: 24664694
    5. A missense mutation in DHDDS is associated with autosomal-recessive retinitis pigmentosa. PMID: 21295282
    6. A variant in DHDDS is associated with retinitis pigmentosa. PMID: 21295283
    7. identification and amino acid sequence expressed in yeast PMID: 12591616
    8. identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions PMID: 14652022
    9. molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis PMID: 15850770

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  • 相關疾病:
    Retinitis pigmentosa 59 (RP59)
  • 亞細胞定位:
    Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin.
  • 蛋白家族:
    UPP synthase family
  • 組織特異性:
    Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.
  • 數據庫鏈接:

    HGNC: 20603

    OMIM: 608172

    KEGG: hsa:79947

    STRING: 9606.ENSP00000353104

    UniGene: Hs.369385



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