製品の概要

  • 製品名Recombinant Human MPV17 protein
  • タンパク質長Full length protein

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号P39210
    • 生物種Human
    • 配列MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGR TLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCF LGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVP LHYRLAVVQCVAVIWNSYLSWKAHRL
    • 分子量45 kDa including tags
    • 領域1 to 176

特性

Our Abpromise guarantee covers the use of ab116947 in the following tested applications.

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

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • Glomerulosclerosis
    • Mpv17
    • Mpv17 human homolog of glomerulosclerosis and nephrotic syndrome
    • MpV17 mitochondrial inner membrane protein
    • MPV17_HUMAN
    • MTDPS6
    • Protein Mpv17
    • SYM1
    see all
  • 機能Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.
  • 組織特異性Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
  • 関連疾患Defects in MPV17 are a cause of hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]. MDS is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA (mtDNA) copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and may affect single organs, typically muscle or liver, or multiple tissues. Individuals with the hepatocerebral form of mitochondrial DNA depletion syndrome have early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids.
    Defects in MPV17 are the cause of Navajo neurohepatopathy (NN) [MIM:256810]. NN is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NN have been described. Mitochondrial DNA depletion was detected in the livers of patients, suggesting a primary defect in mtDNA maintenance.
  • 配列類似性Belongs to the peroxisomal membrane protein PXMP2/4 family.
  • 細胞内局在Mitochondrion inner membrane.
  • Information by UniProt

Recombinant Human MPV17 protein 画像

  • 12.5% SDS-PAGE showing ab116947 at approximately 45.53kDa stained with Coomassie Blue.

Recombinant Human MPV17 protein (ab116947) 使用論文

ab116947 has not yet been referenced specifically in any publications.

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