Your Good Partner in Biology Research

  1. Home
  2. 抗体
  3. 多克隆抗体
  4. ECEL1 Antibody

ECEL1 Antibody

  • 货号：
    CSB-PA007373GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O95672
  • 基因名：
    ECEL1
  • 别名：
    ECEL1; XCE; UNQ2431/PRO4991; Endothelin-converting enzyme-like 1; Xce protein
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human ECEL1
  • 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 0.1% 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
  • 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：
    May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
  • 基因功能参考文献：
    1. Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita. PMID: 25708584
    2. Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) PMID: 25173900
    3. Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D. PMID: 23829171
    4. A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes. PMID: 23808592
    5. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction PMID: 23236030
    6. Mutations in ECEL1 cause distal arthrogryposis type 5D. PMID: 23261301
    7. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene PMID: 18192274

    显示更多

    收起更多

  • 相关疾病：
    Arthrogryposis, distal, 5D (DA5D)
  • 亚细胞定位：
    Membrane; Single-pass type II membrane protein.
  • 蛋白家族：
    Peptidase M13 family
  • 组织特异性：
    Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus,
  • 数据库链接：

    HGNC: 3147

    OMIM: 605896

    KEGG: hsa:9427

    STRING: 9606.ENSP00000302051

    UniGene: Hs.26880