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9.B.317.  The Complex I Integral Membrane Chaperone, TMEM126 (TMEM126) Family 

Cell stress such as hypoxia elicits adaptive responses on cells. An assembly factor for mitochondrial complex I is transmembrane protein 126B (TMEM126B). Fuhrmann et al. 2018 identified changes in complex I abundance under chronic hypoxia, in association with impaired substrate-specific mitochondrial respiration. Complexome profiling of isolated mitochondria of the human leukemia monocytic cell line THP-1 revealed deficits in complex I assembly. They demonstrated a selective decrease of TMEM126B under chronic hypoxiadue to the proteolytic degradation of TMEM126B.

References associated with 9.B.317 family:

Fuhrmann, D.C., I. Wittig, S. Dröse, T. Schmid, N. Dehne, and B. Brüne. (2018). Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia. Cell Mol Life Sci 75: 3051-3067. 29464284
Kloth, K., M. Synofzik, C. Kernstock, S. Schimpf-Linzenbold, F. Schuettauf, A. Neu, B. Wissinger, and N. Weisschuh. (2019). Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. BMC Med Genet 20: 62. 30961538