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CERKL Antibody

  • 货号：
    CSB-PA001592
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of A549 cells using CERKL Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    Q49MI3
  • 基因名：
    CERKL
  • 别名：
    Ceramide kinase like protein antibody; Ceramide kinase-like protein antibody; CERKL antibody; CERKL_HUMAN antibody; Retinitis pigmentosa 26 (autosomal recessive) antibody; RP26 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human CERKL.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:20000
  • 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：
    Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
  • 基因功能参考文献：
    1. Our report indicates that the first diagnostic test for Finnish patients with sporadic or autosomal recessive retinal dystrophy should be a targeted test for founder mutations in the CERKL. PMID: 29068140
    2. The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. PMID: 24547929
    3. pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. PMID: 26296657
    4. CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. PMID: 24735978
    5. An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. PMID: 21508105
    6. Observational study of genetic testing. (HuGE Navigator) PMID: 20801516
    7. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
    8. Observational study of genetic testing. (HuGE Navigator) PMID: 20591486
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
    10. Observational study of gene-disease association. (HuGE Navigator) PMID: 20677014
    11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    12. Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa PMID: 14681825
    13. Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization. PMID: 15708351
    14. Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL. PMID: 16581028
    15. c.238+1G>A is the second reported mutation of CERKL and is a prevalent founder mutation that underlies approximately 33% of autosomal recessive retinal degeneration cases in the Yemenite Jewish population. PMID: 18055789
    16. This study presents the first genotype-phenotype correlation for persons carrying p.Arg257ter mutation and provides clues for a characteristic phenotype of these mutations among persons with autosomal recessive cases. PMID: 18515597
    17. This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease. PMID: 18978954
    18. Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis. PMID: 19158957
    19. The Pleckstrin Homology (PH) domain of CERK, which is required for Golgi complex localization, can substitute for the N-terminal region of CERKL and allow for wild-type CERKL localization, which is typified by nucleolar accumulation. PMID: 19501188
    20. CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. PMID: 19578027
    21. Our data indicate that compound heterozygous mutations of CERKL can cause RP. PMID: 19667359
    22. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18519826
    23. Genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18521091

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  • 相关疾病：
    Retinitis pigmentosa 26 (RP26)
  • 亚细胞定位：
    Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
  • 组织特异性：
    Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as wel
  • 数据库链接：

    HGNC: 21699

    OMIM: 608380

    KEGG: hsa:375298

    STRING: 9606.ENSP00000341159

    UniGene: Hs.732358