Main Information

Target

FH

Host Species

Rabbit

Reactivity

Human, Mouse, Rat

Applications

WB

MW

50kD (Observed)

Conjugate/Modification

Unmodified

Detailed Information

Recommended Dilution Ratio

WB 1:1000

Formulation

PBS, pH 7.4, containing 0.5%BSA, 0.02% sodium azide as Preservative and 50% Glycerol.

Specificity

The antibody detects endogenous fumarase proteins.

Purification

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Storage

-15°C to -25°C/1 year(Do not lower than -25°C)

MW(Observed)

50kD

Modification

Unmodified

Clonality

Polyclonal

Isotype

IgG

Antigen&Target Information

Immunogen:

Recombinant Protein of Fumarate hydratase, mitochondrial

Specificity:

The antibody detects endogenous fumarase proteins.

Gene Name:

FH

Protein Name:

Fumarate hydratase, mitochondrial

Other Name:

Fumarate hydratase, mitochondrial ;
Fumarase ;

Database Link:

Organism	Gene ID	SwissProt
Human	2271;	P07954;
Mouse	14194;	P97807;
Rat		P14408;

Background:

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],

Function:

Catalytic activity:(S)-malate = fumarate + H(2)O.,Disease:Defects in FH are the cause of fumarase deficiency (FD) [MIM:606812]; also known as fumaricaciduria. FD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.,Disease:Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].,Disease:Defects in FH are the cause of multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]. MCUL1 is an autosomal dominant condition in which affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin. Affected females also usually develop leiomyomata of the uterus (fibroids).,Function:Also acts as a tumor suppressor.,miscellaneous:There are 2 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.,pathway:Carbohydrate metabolism; tricarboxylic acid cycle.,PTM:Isoform Cytoplasmic is acetylated at position 2.,similarity:Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.,subunit:Homotetramer.,

Cellular Localization:

[Isoform Mitochondrial]: Mitochondrion .; [Isoform Cytoplasmic]: Cytoplasm, cytosol . Nucleus . Chromosome . Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC. .

Tissue Expression:

Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.

Research Areas:

>>Citrate cycle (TCA cycle) ;
>>Pyruvate metabolism ;
>>Metabolic pathways ;
>>Carbon metabolism ;
>>Cushing syndrome ;
>>Pathways in cancer ;
>>Renal cell carcinoma