Recombinant人MPV17 protein (ab116947)

概述

  • 产品名称Recombinant人MPV17 protein
  • 蛋白长度Full length protein

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionP39210
    • 种属Human
    • 序列MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGR TLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCF LGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVP LHYRLAVVQCVAVIWNSYLSWKAHRL
    • 分子量45 kDa including tags
    • 氨基酸1 to 176

技术指标

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.

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    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

常规信息

  • 别名
    • Glomerulosclerosis
    • Mpv17
    • Mpv17 human homolog of glomerulosclerosis and nephrotic syndrome
    • MpV17 mitochondrial inner membrane protein
    • MPV17_HUMAN
    • MTDPS6
    • Protein Mpv17
    • SYM1
    see all
  • 功能Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.
  • 组织特异性Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
  • 疾病相关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.
  • 序列相似性Belongs to the peroxisomal membrane protein PXMP2/4 family.
  • 细胞定位Mitochondrion inner membrane.
  • Information by UniProt

Recombinant Human MPV17 protein 图像

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

Recombinant Human MPV17 protein (ab116947)参考文献

ab116947 has not yet been referenced specifically in any publications.

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