Fumarase ist ein Gen, das durch das Symbol FH kodiert wird. Andere Namen sind: Fumarate hydratase, mitochondrial; FH. Fumarase hat eine Masse von 54.64kDa, eine Aminosäurelänge von 510, und ist an folgenden Krankheiten beteiligt: Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer.
Wir bieten 1 Fumaraseproteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable).
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Rolle bei Krankheiten
Fumarase deficiency: A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
Hereditary leiomyomatosis and renal cell cancer: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.
Sequenzähnlichkeiten
Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.
Posttranslationale Modifikation
Phosphorylation at Thr-236 by PRKDC in response to DNA damage promotes translocation to the nucleus and recruitment to DNA double-strand breaks (DSBs).
