MpV17 Mitochondrial Inner Membrane Protein (MPV17)

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SYM1; Glomerulosclerosis

MpV17 Mitochondrial Inner Membrane Protein (MPV17)
MPV17 encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS).The Mpv17 strain of mice carries a transgenically produced retroviral insert in its genome. The integration prevents the expression of the Mpv17 gene, leading to the development of glomerulosclerosis in mice homozygous for the integration. Physiologically and histologically, the phenotype of the kidney disease resembles human glomerulosclerosis. The mice demonstrate nephrotic syndrome at an early age.Sequence analysis demonstrated over 90% identity to the mouse Mpv17 gene in the region coding for a protein of 176 amino acids and unknown function.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant MpV17 Mitochondrial Inner Membrane Protein (MPV17)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)CLIA Kit Customized Service Offer
n/aELISA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant MpV17 Mitochondrial Inner Membrane Protein (MPV17)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)CLIA Kit Customized Service Offer
n/aELISA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant MpV17 Mitochondrial Inner Membrane Protein (MPV17)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to MpV17 Mitochondrial Inner Membrane Protein (MPV17)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)CLIA Kit Customized Service Offer
n/aELISA Kit for MpV17 Mitochondrial Inner Membrane Protein (MPV17)ELISA Kit Customized Service Offer
  1. "The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization."Hum. Mol. Genet. 2:1829-1834(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue."Adv. Nephrol. Necker Hosp. 22:37-42(1993) [PubMed] [Europe PMC] [Abstract]
  3. "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Systematic identification of human mitochondrial disease genes through integrative genomics."Nat. Genet. 38:576-582(2006) [PubMed] [Europe PMC] [Abstract]
  7. "MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion."Nat. Genet. 38:570-575(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Navajo neurohepatopathy is caused by a mutation in the MPV17 gene."Am. J. Hum. Genet. 79:544-548(2006) [PubMed] [Europe PMC] [Abstract]