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FH Antibody (N-term) Blocking peptide

Synthetic peptide

     
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Product Information
Primary Accession P07954
Clone Names 90625055
Additional Information
Gene ID 2271
Other Names Fumarate hydratase, mitochondrial, Fumarase, FH
Format Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.
StorageMaintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.
PrecautionsThis product is for research use only. Not for use in diagnostic or therapeutic procedures.
Protein Information
Name FH {ECO:0000303|PubMed:27037871, ECO:0000312|HGNC:HGNC:3700}
Function Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable).
Cellular Location [Isoform Mitochondrial]: Mitochondrion
Tissue Location Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Research Areas
Citations (0)
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Background

The protein encoded by this gene is an enzymatic componentof the tricarboxylic acid (TCA) cycle, or Krebs cycle, andcatalyzes the formation of L-malate from fumarate. It exists inboth a cytosolic form and an N-terminal extended form, differingonly in the translation start site used. The N-terminal extendedform is targeted to the mitochondrion, where the removal of theextension generates the same form as in the cytoplasm. It issimilar to some thermostable class II fumarases and functions as ahomotetramer. Mutations in this gene can cause fumarase deficiencyand lead to progressive encephalopathy.

References

Shimada, M., et al. Hum. Genet. 128(4):433-441(2010)Allegri, G., et al. J. Inherit. Metab. Dis. 33(4):411-419(2010)Yogev, O., et al. PLoS Biol. 8 (3), E1000328 (2010) :Yang, Y., et al. Cancer Genet. Cytogenet. 196(1):45-55(2010)Rikova, K., et al. Cell 131(6):1190-1203(2007)

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$ 277.78
Cat# BP10963a
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