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検索キーワード「xp11 translocation renal cell carcinoma」に一致する投稿を表示しています

Aspscr1 gene 243393-Aspscr1 gene

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ASPSCR1 tether for SLC2, UBX domain containing Aliases TUG, ASPL, ASPS, RCC17, UBXD9, UBXN9, ASPCR1 Location 17q253 Summary The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4) This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscleASPSCR1 expression was also found in all cancer cell lines tested Independently, Heimann et al (01) identified the ASPSCR1 gene, which they called RCC17, partnered with TF in two 5yearold Belgian girls of African origin in whom papillary renal cell carcinomas () carried the translocation t(X;17)(p112;q25)By conditionally expressing in mice the fusion gene ASPSCR1TF from human alveolar soft part sarcoma (ASPS), we generated a model that recapitulates the human tumor histologically and by expression profile, enabling study of the conditions supportive of tumor development Mouse tumors demonstrated angiogenic gene expression in the frank absence of hypoxia and were Combini