NP_000134.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,213 Da
NCBI Official Full Name
fumarate hydratase, mitochondrial
NCBI Official Synonym Full Names
fumarate hydratase
NCBI Protein Information
fumarate hydratase, mitochondrial
UniProt Protein Name
Fumarate hydratase, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
FUMH_HUMAN
NCBI Summary for FH
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]
UniProt Comments for FH
FH: a metabolic enzyme that participates in the tricarboxylic acid cycle that catalyzes the conversion of (S)-malate into fumarate + H2O. There are two substrate binding sites: the catalytic A site, and the non-catalytic B site that may play a role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site may bind allosteric effectors. Fumarate accumulates in the cell when FH is inactivated. Fumarate inhibits the dioxygenases that hydroxylate the transcription factor HIF and leads to its degradation by VHL. Since HIF turns on oncogenic pathways, FH has apparent tumor suppressor activity. Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC), a highly metastatic form of RCC. Defects in FH are the cause of fumarase deficiency (FD) also known as fumaricaciduria. FD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Cells derived from a patient with HLRCC exhibit compromised oxidative phosphorylation, dependence on anaerobic glycolysis, rapid glycolytic flux, and overexpression of lactate dehydrogenase A (LDHA) and GLUT1. Two human isoforms are produced by alternative initiation. The longer isoform is mitochondrial, while the shorter form, missing residues 1-43, is cytoplasmic.
Protein type: Carbohydrate Metabolism - citrate (TCA) cycle; EC 4.2.1.2; Tumor suppressor; Mitochondrial; Lyase
Chromosomal Location of Human Ortholog: 1q42.1
Cellular Component: cytoplasm; cytosol; mitochondrial matrix; mitochondrion; tricarboxylic acid cycle enzyme complex
Molecular Function: fumarate hydratase activity; protein binding
Biological Process: fumarate metabolic process; homeostasis of number of cells within a tissue; malate metabolic process; protein tetramerization; tricarboxylic acid cycle
Disease: Fumarase Deficiency
Precautions
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Products associated with anti-FH antibody
Pathways associated with anti-FH antibody
Products by Pathway |
Pathway Diagram |
Carbon Metabolism Pathway antibodies |
Carbon Metabolism Pathway Diagram |
Carbon Metabolism Pathway antibodies |
Carbon Metabolism Pathway Diagram |
Citrate Cycle (TCA Cycle) Pathway antibodies |
Citrate Cycle (TCA Cycle) Pathway Diagram |
Citrate Cycle (TCA Cycle) Pathway antibodies |
Citrate Cycle (TCA Cycle) Pathway Diagram |
Citrate Cycle (TCA Cycle, Krebs Cycle) Pathway antibodies |
Citrate Cycle (TCA Cycle, Krebs Cycle) Pathway Diagram |
Citrate Cycle (TCA Cycle, Krebs Cycle) Pathway antibodies |
Citrate Cycle (TCA Cycle, Krebs Cycle) Pathway Diagram |
Citrate Cycle, Second Carbon Oxidation, 2-oxoglutarate => Oxaloacetate Pathway antibodies |
Citrate Cycle, Second Carbon Oxidation, 2-oxoglutarate => Oxaloacetate Pathway Diagram |
Citrate Cycle, Second Carbon Oxidation, 2-oxoglutarate => Oxaloacetate Pathway antibodies |
Citrate Cycle, Second Carbon Oxidation, 2-oxoglutarate => Oxaloacetate Pathway Diagram |
Citric Acid Cycle (TCA Cycle) Pathway antibodies |
Citric Acid Cycle (TCA Cycle) Pathway Diagram |
Metabolic Pathways antibodies |
Metabolic Pathways Diagram |
Diseases associated with anti-FH antibody
Organs/Tissues associated with anti-FH antibody
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