MPV17 is a mitochondrial inner membrane protein involved in mitochondrial DNA maintenance. It forms a channel-like structure and is essential for mtDNA replication. MPV17 mutations cause mitochondrial DNA depletion syndrome with hepatic and neurological involvement.
MPV17 Protein is encoded by the MPV17 gene. It is a Mitochondrial inner membrane protein, mtDNA maintenance with a molecular weight of approximately 176 aa. The protein localizes to Mitochondrial inner membrane. [1]
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The MPV17 Protein contains characteristic domains for its function as a Mitochondrial inner membrane protein, mtDNA maintenance. Structural information is available from UniProt and the PDB. [3]
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MPV17 is a mitochondrial inner membrane protein involved in mitochondrial DNA maintenance. It forms a channel-like structure and is essential for mtDNA replication. MPV17 mutations cause mitochondrial DNA depletion syndrome with hepatic and neurological involvement. [5]
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Dysfunction of MPV17 Protein has been implicated in several neurodegenerative diseases: [7]
Research into therapeutic modulation of MPV17 Protein includes:
El-Hattab AW, Craigen WJ, Scaglia F. MPV17-related mitochondrial DNA depletion syndrome. 2017. ↩︎
Wong LJ, Brunetti-Pierri N, Zhang Q, et al. Mutations in MPV17 cause mitochondrial DNA depletion syndrome. 2007. ↩︎
Karadimas CL, Vu TH, Holve SA, et al. MPV17 mutation causing mitochondrial DNA depletion and hepatocerebral disease. 2006. ↩︎
Uusimaa J, Evans J, Smith C, et al. Clinical manifestations, molecular heterogeneity, and mitochondrial dysfunction in MPV17 deficiency. 2013. ↩︎
Parisi MA, Spelbrink JN. MPV17 and mitochondrial DNA depletion: a complex story. 2009. ↩︎
Kaji S, Yoshida M, Ito K, et al. Mitochondrial DNA depletion syndrome with MPV17 mutations in siblings. 2018. ↩︎
Dalla Rosa I, Cavadini P, Bianchi G, et al. MPV17 deficiency leads to mitochondrial dysfunction and neuropathy. 2017. ↩︎