Enables fumarate hydratase activity. Involved in several processes, including fumarate metabolic process; positive regulation of cold-induced thermogenesis; and tricarboxylic acid cycle. Acts upstream
INTRODUCTION: Tm7sf2 gene codifies for 3β-hydroxysterol Δ14-reductase, an endoplasmic reticulum resident protein involved in cholesterol biosynthesis (1, 2). Cholesterol is an essential component of
UBE3A gene codes for a protein with two known functions, a ubiquitin E3-ligase which catalyzes ubiquitin binding to substrate proteins and a steroid hormone receptor coactivator. UBE3A is most famous
