The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesELISA: Use at an assay dependent dilution.
WB: Use at a concentration of 1 - 2 µg/ml. Predicted molecular weight: 20 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionActs as a molecular chaperone for mitochondrial complex I assembly.
Tissue specificityHighly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
Involvement in diseaseDefects in NDUFAF2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Sequence similaritiesBelongs to the complex I NDUFA12 subunit family.