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LEPREL1 Antibody

  • 货号：
    CSB-PA012873GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8IVL5
  • 基因名：
    P3H2
  • 别名：
    4832416N06 antibody; AW553532 antibody; Leprecan like 1 antibody; Leprecan-like protein 1 antibody; Leprel1 antibody; MCVD antibody; MLAT4 antibody; Myxoid liposarcoma-associated protein 4 antibody; P3H2 antibody; P3H2_HUMAN antibody; Prolyl 3 hydroxylase 3 antibody; Prolyl 3-hydroxylase 2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human LEPREL1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule. Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4-hydroxyproline in the third position.
  • 基因功能参考文献：
    1. Data identified an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. PMID: 29956121
    2. Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation. PMID: 25469533
    3. LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract. PMID: 24172257
    4. mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. PMID: 25525168
    5. High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. PMID: 21885030
    6. P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains PMID: 21757687
    7. P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes. PMID: 18487197
    8. The restriction of silencing in P3H2 to breast carcinomas, and its association with oestrogen-receptor-positive cases, suggests that P3H2 may be a breast-cancer-specific tumour suppressor. PMID: 19436308

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  • 相关疾病：
    Myopia, high, with cataract and vitreoretinal degeneration (MCVD)
  • 亚细胞定位：
    Endoplasmic reticulum. Sarcoplasmic reticulum. Golgi apparatus.
  • 蛋白家族：
    Leprecan family
  • 组织特异性：
    Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells (at protein level).
  • 数据库链接：

    HGNC: 19317

    OMIM: 610341

    KEGG: hsa:55214

    STRING: 9606.ENSP00000316881

    UniGene: Hs.374191