Recombinant人FH protein (ab116496)

概述

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • AccessionP07954
    • 种属Human
    • 序列MASQNSFRIE 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
    • 分子量50 kDa
    • 氨基酸44 to 510

技术指标

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.

  • 应用

    SDS-PAGE

  • 纯度> 95 % SDS-PAGE.
    ab116496 was purified by proprietary chromatographic techniques and filter sterilized.
  • 形式Liquid
  • 补充说明Store 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...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Please see notes section.

    pH: 8.00
    Constituent: 0.32% Tris HCl

常规信息

  • 别名
    • 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
  • 功能Also acts as a tumor suppressor.
  • 通路Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1.
  • 疾病相关Defects 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].
  • 序列相似性Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.
  • 细胞定位Cytoplasm and Mitochondrion.
  • Information by UniProt

Recombinant Human FH protein (ab116496)参考文献

ab116496 has not yet been referenced specifically in any publications.

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