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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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TMEM127

Introduction

Transmembrane protein 127 (TMEM127) is a transmembrane protein which is encoded by the TMEM127 gene.[1]. It has been demonstrated to be a negative regulator MTOR signalling.[2] TMEM127 is a tumor suppressor gene, inactivating germline mutations in which causes hereditary pheochromocytoma and paraganglioma.[2][3]

References

  1. ↑ “TMEM127 transmembrane protein 127 [Homo sapiens (human)] – Gene – NCBI”. www.ncbi.nlm.nih.gov. Retrieved 2018-03-09.
  2. ↑ 2.0 2.1 Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). “Germline mutations in TMEM127 confer susceptibility to pheochromocytoma”. Nature Genetics. 42 (3): 229–33. doi:10.1038/ng.533. PMC 2998199. PMID 20154675.
  3. ↑ Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (August 2011). “Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites”. The Journal of Clinical Endocrinology and Metabolism. 96 (8): E1279–82. doi:10.1210/jc.2011-0114. PMID 21613359.