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The protein encoded by FH is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. Additionally we are shipping FH Antibodies (143) and FH Proteins (21) and many more products for this protein.
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A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male and his father, which predisposes to an aggressive form of renal cell cancer.
While the great majority of patients with hereditary leiomyomatosis and renal cell carcinoma will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation.
significant association with overall survival were confirmed for SDHC (show SDHC ELISA Kits) gene, SDHD (show SDHD ELISA Kits) gene and FH gene ... SDHC (show SDHC ELISA Kits) gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma
Describe a novel mutation in the fumarate hydratase gene in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7 (show RGS7 ELISA Kits)-FH interval
Morphology and immunohistochemistry for fumarate hydratase aid in detection of fumarate hydratase mutations in uterine leiomyomas from young patients.
Case report of a family with a fumarate hydratase mutation causing uterine leiomyomas and renal cell cancer.
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 (show JAK2 ELISA Kits) V617F and MPL (show MPL ELISA Kits) W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
Novel missense mutation has been found in the fumarate hydratase gene in familial renal cell cancer patients lacking cutaneous leiomyomas.
These results extend the range of clinical and biochemical variation associated with fumarase deficiency.
Reexpression of cytosolic FH in FH1-deficient mice is critical for the suppression of renal cyst development and restoration of defects in the arginine biosynthesis pathway.
Tumor-derived FH and SDH (show SDS ELISA Kits) mutations accumulate fumarate and succinate, leading to enzymatic inhibition of multiple alpha-KG-dependent dioxygenases and consequent alterations of genome-wide histone and DNA methylation (show HELLS ELISA Kits).
identification of a metabolic pathway that is induced in Fh1-deficient cells to demonstrate that inhibition of haem oxygenation is synthetically lethal when combined with Fh1 deficiency, providing a new potential target for treating HLRCC patients
These experiments demonstrated that upregulation of HIF-1alpha (show HIF1A ELISA Kits) occurs as a direct consequence of FH inactivation.
progression of tumors where FH is lost might be boosted by activation of the MET oncogene (show RAB1A ELISA Kits), which is able to drive cell-autonomous tumor progression
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.
fumarate hydratase, mitochondrial
, fumarate hydratase
, fumarate hydratase 1