Analysis of SDHA Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1838-LGZ)

Introduction

Official Full Name: succinate dehydrogenase complex flavoprotein subunit A
Also known as: FP; PGL5; SDH1; SDH2; SDHF; CMD1GG; MC2DN1; NDAXOA
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.