Complex I assembly factor TMEM126B, mitochondrial (TMEM126B)

TMEM126B (Complex I assembly factor TMEM126B, mitochondrial) is a mammalian mitochondrial transmembrane protein required for the proper assembly of mitochondrial respiratory chain complex I. It is classified as an extrinsic assembly factor: it transiently associates with complex I subassemblies but is not part of the mature enzyme complex. TMEM126B interacts with other assembly factors such as NDUFAF1, ACAD9, and ECSIT to mediate the formation and stabilization of the membrane arm of complex I. Mutations in TMEM126B cause impaired complex I assembly and result in a spectrum of mitochondrial diseases, most notably isolated complex I deficiency, which leads to mitochondrial dysfunction and clinical phenotypes such as exercise intolerance and myopathy[1][2]. TMEM126B is not itself a classic therapeutic target (receptor, enzyme, etc.), but defects in this factor are implicated in human disease[2].

Other names

Transmembrane protein 126BHT007MC1DN29complex I assembly factor TMEM126B