Analysis of SDHB Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0084-LGZ)

Introduction

Also known as: IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4<br />This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex, which plays a key role in mitochondria. The SDH enzyme complex consists of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate, releasing electrons as part of the citric acid cycle, and this enzyme complex also provides attachment sites for the released electrons, transferring them to the oxidative phosphorylation pathway. The SDH enzyme complex is involved in oxygen-related gene regulation by converting succinate, an oxygen sensor, and stabilizing the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene cause paragangliomas, pheochromocytomas, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene have also been associated with nuclear type 4 mitochondrial complex II deficiency.