Overview

  • Product nameRecombinant Human MPV17 protein
  • Protein lengthFull length protein

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP39210
    • SpeciesHuman
    • SequenceMALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGR TLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCF LGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVP LHYRLAVVQCVAVIWNSYLSWKAHRL
    • Molecular weight45 kDa including tags
    • Amino acids1 to 176

Specifications

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.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • Glomerulosclerosis
    • Mpv17
    • Mpv17 human homolog of glomerulosclerosis and nephrotic syndrome
    • MpV17 mitochondrial inner membrane protein
    • MPV17_HUMAN
    • MTDPS6
    • Protein Mpv17
    • SYM1
    see all
  • FunctionInvolved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.
  • Tissue specificityUbiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the peroxisomal membrane protein PXMP2/4 family.
  • Cellular localizationMitochondrion inner membrane.
  • Information by UniProt

Recombinant Human MPV17 protein images

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

References for Recombinant Human MPV17 protein (ab116947)

ab116947 has not yet been referenced specifically in any publications.

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