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PYCR1 Antibody

  • 货号：
    CSB-PA019115GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P32322
  • 基因名：
    PYCR1
  • 别名：
    PYCR1 antibody; Pyrroline-5-carboxylate reductase 1 antibody; mitochondrial antibody; P5C reductase 1 antibody; P5CR 1 antibody; EC 1.5.1.2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Human PYCR1
  • 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：
    Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress.
  • 基因功能参考文献：
    1. we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann-Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes PMID: 30450527
    2. Results indicate that single-nucleotide polymorphism (SNP)-derived mutations, R119G and G206W, enhance the rigidity of pyrroline-5-carboxylate reductase (P5CR) structure. PMID: 27677826
    3. these findings revealed that the mRNA and protein PYCR1 levels were significantly related to the poor outcome in either ER-negative or ER-positive breast cancer. PYCR1 could serve as a prognostic biomarker, therapeutic target and predictive biomarker for breast cancers. PMID: 28379297
    4. PYCR1 forms a concentration-dependent decamer in solution, consistent with the pentamer-of-dimers assembly seen crystallographically PMID: 28258219
    5. s found that PYCR1 was highly expressed in prostate cancer tissues and then knocked down PYCR1 in PCa cell lines (DU145, PC-3 and LNCap) via lentivirus-mediated gene delivery and analyzed its biological function. PMID: 28078560
    6. experimental results indicate the R119G mutation could be an involving pathomechanism for Autosomal recessive cutis laxa . PMID: 28194412
    7. Silencing of both PYCR1 and PYCR2 completely abolished anti-oxidation activity of RRM2B, demonstrating a functional collaboration of these metabolic enzymes in response to oxidative stress. PMID: 26733354
    8. confirming that indeed PYCR1 generates L-pipecolic acid from Delta(1)-piperideine-6-carboxylate PMID: 24431009
    9. our current study presents the second largest group of patients with PYCR1-related ARCL and expands the clinical and genetic spectrum. PMID: 24035636
    10. Identification of two new mutations in the PYCR1 gene in patients with autosomal recessive cutis laxa, type 2. PMID: 23531708
    11. Data suggest that DJ-1 and PYCR1 are on the same pathway of anti-oxidative stress protection of the cells. PMID: 23743200
    12. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with De Barsy syndrome (DBS). PMID: 22052856
    13. Mutation analysis revealed the presence of disease-causing variants in PYCR1, including a novel deletion of the entire PYCR1 gene in one family, and in each of the other patients the homozygous missense mutations. PMID: 21487760
    14. A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. PMID: 21567914
    15. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B. PMID: 21204221
    16. Mutagenesis and kinetic studies reveal the pivotal roles of the dinucleotide-binding Rossmann motif and residue Glu221 in the human enzyme Pyrroline-5-carboxylate reductase(P5CR). PMID: 16730026
    17. In Autosomal-recessive cutis laxa type 2, a single nucleotide change leads to a missense mutation adjacent to a splice junction in the gene encoding PYCR1. PMID: 19576563
    18. Mutations in PYCR1 cause cutis laxa with progeroid features. PMID: 19648921

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  • 相关疾病：
    Cutis laxa, autosomal recessive, 2B (ARCL2B); Cutis laxa, autosomal recessive, 3B (ARCL3B)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Pyrroline-5-carboxylate reductase family
  • 数据库链接：

    HGNC: 9721

    OMIM: 179035

    KEGG: hsa:5831

    STRING: 9606.ENSP00000328858

    UniGene: Hs.163451