Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
Involvement in disease
Defects in TMEM127 are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Belongs to the TMEM127 family.
Cell membrane. Cytoplasm. Association of TMEM127 with the cell membrane is enhanced by inhibition of endocytosis. In the cytoplasm, it colocalizes with markers of early endosomal structures, Golgi apparatus and lysosomes.
All lanes : Anti-TMEM127 antibody (ab123516) at 0.1 µg/ml
Lane 1 : HeLa whole cell lysate at 50 µg Lane 2 : HeLa whole cell lysate at 15 µg Lane 3 : 293T whole cell lysate at 50 µg Lane 4 : Jurkat whole cell lysate at 50 µg Lane 5 : NIH3T3 whole cell lysate at 50 µg
Detection of TMEM127 by Western Blot of Immunprecipitate.
Lane 1: ab123516 at 1µg/ml staining TMEM127 in HeLa whole cell lysate immunoprecipitated using ab123516 at 6µg/mg lysate (1 mg/IP; 20% of IP loaded/lane). Lane 2: Control IgG
Detection: Chemiluminescence with exposure time of 30 seconds.