BD-PN5599

FH Rabbit Polyclonal Antibody

Fumarate hydratase, mitochondrial (Fumarase) (EC 4.2.1.2)

常规抗体

FH

Fumarate hydratase, mitochondrial

WB

Human,Mouse,Rat

PBS, pH 7.4, containing 0.5%BSA, 0.02% New type preservative N as Preservative and 50% Glycerol.

2271

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2271

P07954

http://www.uniprot.org/uniprotkb/P07954/entry

14194

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=14194

P97807

http://www.uniprot.org/uniprot/P97807

P14408

http://www.uniprot.org/uniprot/P14408

Recombinant Protein of Fumarate hydratase, mitochondrial

The antibody detects endogenous fumarase proteins.

WB 1:1000

50kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

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

[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. .

Citrate cycle (TCA cycle);Pathways in cancer;Renal cell carcinoma;

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.,

现货

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