The TMEM126B protein was initially recognized as part of the mitochondrial complex I assembly (MCIA) complex through its interaction with other member proteins (ACAD9, NDUFAF1, Ecsit). TMEM126B-related mitochondrial disease is associated with autosomal recessive inheritance. Diagnostic screening of TMEM126B is available as part of the NHS Genomic Medicine Service. There are two founder variants in the European population, c.635G>T, p.Gly212Val and c.401delA, p.Asn134Ilefsā2. Analysis of available patient cells showed an isolated complex I deficiency and BN-PAGE analysis confirmed a defect in complex I assembly that was rescued by expression of wildtype TMEM126B cDNA.
TMEM126B