8teq
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Tropomyosin-receptor kinase fused gene protein (TRK-fused gene protein; TFG) Low Complexity Domain (residues 237-327) G269V mutant, amyloid fiber
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Structural highlights
DiseaseTFG_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. FunctionTFG_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
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This page was last modified 10:05, 20 December 2023.