Epigenetics & Nuclear Signaling Recombinant Proteins

Human Fumarase/FH Recombinant Protein (RPES3599)

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SKU:
RPES3599
Product Type:
Recombinant Protein
Species:
Human
Research Area:
Epigenetics & Nuclear Signaling

Description

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Human Fumarase/FH Recombinant Protein

Fumarate Hydratase (FH) 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. Fumarate Hydratase 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. Individuals with hemizygous germline fumarate hydratase (FH) mutations are predisposed to renal cancer. These tumors predominantly exhibit functional inactivation of the remaining wild-type allele, implicating FH inactivation as a tumor-promoting event.

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