Analysis of FH Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0975-LGZ)

Introduction

Official Full Name: fumarate hydratase
Also known as: MCL; FMRD; HsFH; LRCC; HLRCC; MCUL1
The protein encoded by this gene is an enzyme component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in a cytoplasmic form and an N-terminal extension that differs only in the translation initiation site. The N-terminal extension form is directed against the mitochondria, where removal of the extension yields the same form as in the cytoplasm. It resembles some thermotolerant class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy.