Recombinant Human Protein TFG (TFG)

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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HGNC: 11758

OMIM: 602498

KEGG: hsa:10342

STRING: 9606.ENSP00000240851

UniGene: Hs.518123