MPV17

Gene name: MpV17 mitochondrial inner membrane protein
OMIM ID: 137960
Chromosome location: 2p23.3

Mutations

Disease/Phenotype	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Reference transcript	NM_002437.4
DNA Change	c.498C>A
A.A. Change	p.Asn166Lys
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5.

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