Analysis of NDUFS2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0155-LGZ)

Introduction

Also known as: CI-49; MC1DN6
The protein encoded by this gene is the core subunit of mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I consists of at least 43 distinct subunits, seven of which are encoded by the mitochondrial genome and the rest are products of nuclear genes. The iron-sulfur protein portion of complex I consists of seven subunits, including the gene product. Complex I catalyzes NADH oxidation with concomitant reduction of ubiquinone and extramitochondrial proton ejection. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternative splice transcript variants of this gene have been found to encode distinct isoforms.