Flow cytometric analysis of TFG expression in HepG2 cells using TFG antibody. Green, isotype control; red, TFG.
Immunocytochemical staining of HepG2 cells with TFG antibody. Nuclei were stained blue with DAPI; TFG? was stained magenta with Alexa Fluor? 647. Images were taken using Leica stellaris 5. Protein abundance based on laser Intensity and smart gain: Medium. Scale bar, 20 μm.
Western blotting analysis using TFG antibody. Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with TFG antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively.
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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.
基因功能參考文獻(xiàn):
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
TFG organizes transitional ER (tER) and ER exit sites (ERESs) into larger structures. PMID: 27184855
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
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
This study finding p.Gly269Val in a newly identified Iranian pedigree affected with hereditary motor and sensory neuropathy with proximal predominance. PMID: 27653917
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry. PMID: 25725944
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
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
TFG plays an important role in the protein secretory pathways that are essential for proper functioning of the human peripheral nervous system. PMID: 25098539
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
TFG plays a pivotal role in negative regulation of RNA-sensing, RIG-I-like receptor (RLR) family signaling pathways. PMID: 23810392
Whole-exome sequencing reveals that HMSN-P is caused by a mutation in the TRK-fused gene on chromosome 3q13.2 PMID: 23553329
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. PMID: 23479643
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
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. PMID: 22883144
Mutations in TFG may have important clinical relevance for current therapeutic strategies to treat metastatic melanoma. PMID: 22250051
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
TFG was fused to NOR1 is a patient with extraskeletal myxoid chondrosarcoma. PMID: 15188455
TFG is a novel protein able to modulate SHP-1 activity. PMID: 15557341
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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相關(guān)疾病:
Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO); Spastic paraplegia 57, autosomal recessive (SPG57)