The MPV17 Antibody (PACO10562) is a vital tool for researchers studying MPV17, a protein associated with mitochondrial maintenance and dysfunction. This polyclonal antibody, produced in rabbits, is highly specific for detecting MPV17 in human samples and has been validated for use in various immunoassays, including Western blotting.MPV17 is a crucial component of mitochondrial DNA maintenance, playing a critical role in mitochondrial function and integrity. Dysregulation of MPV17 has been linked to various mitochondrial disorders and diseases, making it a promising target for research in the fields of genetics, metabolism, and neurodegenerative disorders.
By using the MPV17 Antibody, researchers can accurately detect and analyze the expression of MPV17 in different cell types, facilitating investigations into its role in mitochondrial biology and disease pathogenesis. This antibody is an essential tool for unraveling the complex mechanisms underlying mitochondrial dysfunction and exploring potential therapeutic strategies for associated conditions.
MPV17: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6). A disease characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Belongs to the peroxisomal membrane protein PXMP2/4 family.Protein type: Membrane protein, integral; Membrane protein, multi-pass; MitochondrialChromosomal Location of Human Ortholog: 2p23.3Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane; peroxisomeBiological Process: mitochondrial genome maintenance; homeostatic process; glomerular basement membrane development; inner ear developmentDisease: Mitochondrial Dna Depletion Syndrome 6 (hepatocerebral Type)
UniProt Protein Details:
NCBI Summary:
This gene 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). [provided by RefSeq, Jul 2008]
