FH | Fumarase Mouse mAb (一抗) - WB,IHC-P,IHC-F,IF | Bioss

bsm-33167M

KO/KD Validated

FH | Fumarase Mouse mAb

富马酸水合酶单克隆抗体

FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1; Fh; Fh-1; Fumarase; Fh1; im:7152785; ns:zf-e152; zf-e152; zgc:66253; zgc:77498; FUMH_HUMAN; 4.2.1.2; FUMH_MOUSE; EF-3; FUMH_PIG; FUMH_RAT; FUMH_DANRE; fumarate hydratase

Mouse

Recombinant human Fumarase/FH Protein

IgG

Size : 50ul/100ul/200ul
Liquid

Size : 200ug (PBS only)
Lyophilized
Note: Centrifuge tubes before opening. Reconstitute the lyophilized product in distilled water. Optimal concentration should be determined by the end user.

affinity purified by Protein G

Monoclonal

4C12

51 kDa

42 kDa

1mg/ml

Size : 50ul/100ul/200ul
0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Size : 200ug (PBS only)
0.01M PBS (pH7.4).

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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]

FH

Fumarate hydratase, mitochondrial

Homotetramer.

Cytoplasm, Mitochondrion

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

Fumarase deficiency (FMRD): The disease is caused by mutations affecting the gene represented in this entry. A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.

Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.

Also acts as a tumor suppressor.