Biology:TMEM127

From HandWiki
Short description: Transmembrane protein


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"]. https://www.ncbi.nlm.nih.gov/gene/55654. 
  2. ↑ 2.0 2.1 "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics 42 (3): 229–33. March 2010. doi:10.1038/ng.533. PMID 20154675. 
  3. ↑ "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. August 2011. doi:10.1210/jc.2011-0114. PMID 21613359. 




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