Human Fumae hydase, mitochondrial (FH) ELISA Kit | FH elisa kit

Human Fumae hydase, mitochondrial (FH) ELISA Kit

Cat. Num. AAA7218107

• Gene Names: FH; MCL; LRCC; HLRCC; MCUL1
• Reactivity: Human
• Synonyms: Fumae hydase; mitochondrial (FH); Human Fumae hydase; mitochondrial (FH) ELISA Kit; FH elisa kit

• Reactivity: Human

• Samples: Serum, plasma, cell culture supernatants, body fluid and tissue homogenate
• Assay Type: Quantitative Competitive
• Sensitivity: 1.0 ng/mL.
• Preparation and Storage: Store all reagents at 2-8 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for FH elisa kit

Intended Uses: This FH ELISA kit is a 1.5 hour solid-phase ELISA designed for the quantitative determination of Human FH. This ELISA kit for research use only!

Principle of the Assay: FH ELISA kit applies the competitive enzyme immunoassay technique utilizing a polyclonal anti-FH antibody and an FH-HRP conjugate. The assay sample and buffer are incubated together with FH-HRP conjugate in pre-coated plate for one hour. After the incubation period, the wells are decanted and washed five times. The wells are then incubated with a substrate for HRP enzyme. The product of the enzyme-substrate reaction forms a blue colored complex. Finally, a stop solution is added to stop the reaction, which will then turn the solution yellow. The intensity of color is measured spectrophotometrically at 450nm in a microplate reader. The intensity of the color is inversely proportional to the FH concentration since FH from samples and FH-HRP conjugate compete for the anti-FH antibody binding site. Since the number of sites is limited, as more sites are occupied by FH from the sample, fewer sites are left to bind FH-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The FH concentration in each sample is interpolated from this standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 19743875
• NCBI GeneID: 2271
• NCBI Accession #: NP_000134.2
• NCBI GenBank Nucleotide #: NM_000143.3
• Molecular Weight: 50,213 Da
• NCBI Official Full Name: fumarate hydratase, mitochondrial
• NCBI Official Synonym Full Names: fumarate hydratase
• NCBI Official Symbol: FH
• NCBI Official Synonym Symbols: MCL; LRCC; HLRCC; MCUL1
• NCBI Protein Information: fumarate hydratase, mitochondrial; fumarase
• UniProt Protein Name: Fumarate hydratase, mitochondrial
• UniProt Gene Name: FH
• UniProt Synonym Gene Names: Fumarase
• UniProt Entry Name: FUMH_HUMAN

NCBI Description

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 Description

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: EC 4.2.1.2; Mitochondrial; Tumor suppressor; Lyase; Carbohydrate Metabolism - citrate (TCA) cycle

Chromosomal Location of Human Ortholog: 1q42.1

Cellular Component: tricarboxylic acid cycle enzyme complex; mitochondrion; mitochondrial matrix; cytoplasm

Molecular Function: fumarate hydratase activity

Biological Process: cellular metabolic process; fumarate metabolic process; homeostasis of number of cells within a tissue; tricarboxylic acid cycle

Disease: Fumarase Deficiency