The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 - 2 µg/ml. Predicted molecular weight: 29 kDa.
Use at an assay dependent concentration.
Use a concentration of 5 µg/ml.
Involved in biogenesis of mitochondrial ATP synthase.
Involvement in disease
Defects in TMEM70 are a cause of mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD) [MIM:604273]; also known as ATPase deficiency. A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.