| Structural highlights
Disease
TFG_HUMAN Autosomal recessive spastic paraplegia type 57;Extraskeletal myxoid chondrosarcoma;Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation;Hereditary motor and sensory neuropathy, Okinawa type;Differentiated thyroid carcinoma. A chromosomal aberration involving TFG is found in papillary thyroid carcinomas (PTCs). Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3'-end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript.[1] The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
TFG_HUMAN Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858).[2] [3] [4] A0A2U3DNX3_PURLI
References
- ↑ Greco A, Mariani C, Miranda C, Lupas A, Pagliardini S, Pomati M, Pierotti MA. The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain. Mol Cell Biol. 1995 Nov;15(11):6118-27. PMID:7565764 doi:10.1128/MCB.15.11.6118
- ↑ Witte K, Schuh AL, Hegermann J, Sarkeshik A, Mayers JR, Schwarze K, Yates JR 3rd, Eimer S, Audhya A. TFG-1 function in protein secretion and oncogenesis. Nat Cell Biol. 2011 May;13(5):550-8. PMID:21478858 doi:10.1038/ncb2225
- ↑ Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. PMID:23479643 doi:10.1073/pnas.1217197110
- ↑ Kanadome T, Shibata H, Kuwata K, Takahara T, Maki M. The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein. FEBS J. 2017 Jan;284(1):56-76. PMID:27813252 doi:10.1111/febs.13949
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