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FH / Fumarase / MCL 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.
Gene Name: | fumarate hydratase |
Synonyms: | FH, Fumarase, Fumarate hydratase, MCUL1, HLRCC, LRCC, MCL |
Target Sequences: | NM_000143 NP_000134.2 P07954 |
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