Full name: fumarate hydratase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1

Summary: The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in heart (RPKM 49.3), liver (RPKM 41.8) and 25 other tissues

Gene size: 22153bp

Exon count: 10