Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionP07954
    • SpeciesHuman
    • SequenceMASQNSFRIE YDTFGELKVP NDKYYGAQTV RSTMNFKIGG VTERMPTPVI KAFGILKRAA AEVNQDYGLD PKIANAIMKA ADEVAEGKLN DHFPLVVWQT GSGTQTNMNV NEVISNRAIE MLGGELGSKI PVHPNDHVNK SQSSNDTFPT AMHIAAAIEV HEVLLPGLQK LHDALDAKSK EFAQIIKIGR THTQDAVPLT LGQEFSGYVQ QVKYAMTRIK AAMPRIYELA AGGTAVGTGL NTRIGFAEKV AAKVAALTGL PFVTAPNKFE ALAAHDALVE LSGAMNTTAC SLMKIANDIR FLGSGPRSGL GELILPENEP GSSIMPGKVN PTQCEAMTMV AAQVMGNHVA VTVGGSNGHF ELNVFKPMMI KNVLHSARLL GDASVSFTEN CVVGIQANTE RINKLMNESL MLVTALNPHI GYDKAAKIAK TAHKNGSTLK ETAIELGYLT AEQFDEWVKP KDMLGPK
    • Molecular weight50 kDa
    • Amino acids44 to 510

Specifications

Our Abpromise guarantee covers the use of ab116496 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity> 95 % SDS-PAGE.
    ab116496 was purified by proprietary chromatographic techniques and filter sterilized.
  • FormLiquid
  • Additional notesStore at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Please see notes section.

    pH: 8.00
    Constituent: 0.32% Tris HCl

General Info

  • Alternative names
    • FH
    • Fumarase
    • Fumarate hydratase
    • Fumarate hydratase mitochondrial
    • Fumarate hydratase, mitochondrial
    • FUMH_HUMAN
    • HLRCC
    • LRCC
    • MCL
    • MCUL 1
    • MCUL1
    • MS709
    • Multiple hereditary cutaneous leiomyomata
    see all
  • FunctionAlso acts as a tumor suppressor.
  • PathwayCarbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1.
  • Involvement in diseaseDefects in FH are the cause of fumarase deficiency (FHD) [MIM:606812]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
    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).
    Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].
  • Sequence similaritiesBelongs to the class-II fumarase/aspartase family. Fumarase subfamily.
  • Cellular localizationCytoplasm and Mitochondrion.
  • Information by UniProt

References for Recombinant Human FH protein (ab116496)

ab116496 has not yet been referenced specifically in any publications.

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