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TFG Antibody

  • 货号：
    CSB-PA023434GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q92734
  • 基因名：
    TFG
  • 别名：
    FLJ36137 antibody; HMSNP antibody; OTTHUMP00000214045 antibody; OTTHUMP00000214046 antibody; OTTHUMP00000214047 antibody; OTTHUMP00000214048 antibody; Protein TFG antibody; SPG57 antibody; TF6 antibody; TFG antibody; TFG_HUMAN antibody; TRK fused antibody; TRK fused gene antibody; TRK fused gene protein antibody; TRK-fused gene protein antibody; TRKT3 antibody; TRKT3 oncogene antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TFG
  • 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,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：
    Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.
  • 基因功能参考文献：
    1. Differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. these findings extend the phenotypic spectrum associated with the TFG mutations in Hereditary spastic paraplegia. PMID: 28124177
    2. TFG organizes transitional ER (tER) and ER exit sites (ERESs) into larger structures. PMID: 27184855
    3. Results identified two TFG variants associated with hereditary spastic paraplegias (HSP) (c.316C>T and c.317G> A) confirming the causal nature of bi-allelic TFG mutations for HSP, and suggest that that mitochondrial impairment represents a pathomechanistic link to other neurodegenerative conditions. PMID: 27492651
    4. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. PMID: 27601211
    5. This study finding p.Gly269Val in a newly identified Iranian pedigree affected with hereditary motor and sensory neuropathy with proximal predominance. PMID: 27653917
    6. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry. PMID: 25725944
    7. TFG functions at the endoplasmic reticulum (ER)/ER-Golgi intermediate compartments (ERGIC) interface to locally concentrate COPII-coated transport carriers and link exit sites on the ER to ERGIC membranes. PMID: 25586378
    8. TRIM68 targets TFG, a novel regulator of IFN production, and in doing so turns off and limits type I IFN production in response to anti-viral detection systems PMID: 24999993
    9. TFG plays an important role in the protein secretory pathways that are essential for proper functioning of the human peripheral nervous system. PMID: 25098539
    10. Study demonstrates that TFG1 physiologically functions to inhibit the protein degradation system, resulting in an increase in ER resident proteins and ER stress; the P285L mutant substantially enhances these consequences PMID: 24613659
    11. TFG plays a pivotal role in negative regulation of RNA-sensing, RIG-I-like receptor (RLR) family signaling pathways. PMID: 23810392
    12. Whole-exome sequencing reveals that HMSN-P is caused by a mutation in the TRK-fused gene on chromosome 3q13.2 PMID: 23553329
    13. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. PMID: 23479643
    14. results suggest that the oncogenic effect of the t(3;9) translocation may be due to the TFG-TEC chimeric protein and that fusion of the TFG (NTD) to the TEC protein produces a gain-of-function chimeric product PMID: 22581839
    15. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. PMID: 22883144
    16. Mutations in TFG may have important clinical relevance for current therapeutic strategies to treat metastatic melanoma. PMID: 22250051
    17. A polymorphic gene fusion consisting of TRK-fused gene and G-protein-coupled receptor 128 is identified in healthy individuals and in patients with lymphoma and soft tissue neoplasms. PMID: 19797732
    18. TFG was fused to NOR1 is a patient with extraskeletal myxoid chondrosarcoma. PMID: 15188455
    19. TFG is a novel protein able to modulate SHP-1 activity. PMID: 15557341
    20. TFG enhances the effect of TNF-alpha, TANK, TNF receptor-associated factor (TRAF)2, and TRAF6 in inducing NF-kappaB activity; it is suggested that TFG is a novel member of the NF-kappaB pathway PMID: 16547966

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  • 相关疾病：
    Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO); Spastic paraplegia 57, autosomal recessive (SPG57)
  • 亚细胞定位：
    Endoplasmic reticulum.
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 11758

    OMIM: 602498

    KEGG: hsa:10342

    STRING: 9606.ENSP00000240851

    UniGene: Hs.518123