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RPGRIP1L Antibody

  • 货号：
    CSB-PA020101GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q68CZ1
  • 基因名：
    RPGRIP1L
  • 别名：
    CORS 3 antibody; CORS3 antibody; Fantom antibody; FTM antibody; FTM_HUMAN antibody; JBTS 1 antibody; JBTS 7 antibody; JBTS1 antibody; JBTS7 antibody; Joubert syndrome 1 antibody; Joubert syndrome 7 antibody; Meckel syndrome; type 1 antibody; Meckel syndrome; type 5 antibody; MKS 5 antibody; MKS5 antibody; Nephrocystin-8 antibody; NPHP 8 antibody; NPHP8 antibody; Protein fantom antibody; Retinitis pigmentosa GTPase regulator interacting protein 1 like antibody; RPGR interacting protein 1 like protein antibody; RPGR-interacting protein 1-like protein antibody; RPGRIP1 like protein antibody; RPGRIP1-like protein antibody; Rpgrip1l antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Human RPGRIP1L
  • 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,WB
  • 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：
    Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins. Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2.
  • 基因功能参考文献：
    1. we didn't found the significant association between RPGRIP1L and BMI in Chinese women PMID: 29657248
    2. our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients. PMID: 28266547
    3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
    4. KIAA1005 (rs3213758)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
    5. All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient. PMID: 22876109
    6. First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia. PMID: 22425971
    7. Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. PMID: 22183348
    8. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
    9. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. PMID: 21685204
    10. Insulin was identified as a key factor regulating FTM expression during human preadipocyte differentiation. PMID: 20865646
    11. CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4. PMID: 20519441
    12. RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration. PMID: 19430481
    13. Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. PMID: 19574260
    14. Responsible for Joubert syndrome, affecting cilia and basal bodies. PMID: 17558407
    15. Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome. PMID: 17558409
    16. T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of Joubert syndrome type B patients negative for NPHP1, NPHP6, or AHI1 mutations PMID: 17960139
    17. Discuss Fto/Ftm gene expression regulation via CUTL1. PMID: 18256137
    18. Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. Review. PMID: 18281315
    19. RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%). PMID: 18565097
    20. data suggest that RPGRIP1L suppresses anchorage-independent growth partly through the mitotic checkpoint protein Mad2. PMID: 19410446

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  • 相关疾病：
    Joubert syndrome 7 (JBTS7); Meckel syndrome 5 (MKS5); COACH syndrome (COACHS)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction.
  • 蛋白家族：
    RPGRIP1 family
  • 组织特异性：
    Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.
  • 数据库链接：

    HGNC: 29168

    OMIM: 216360

    KEGG: hsa:23322

    STRING: 9606.ENSP00000369257

    UniGene: Hs.298382