Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
OMIM:256810Mode of inheritance:Autosomal recessive
Disease classification:Not elsewhere classified
Mutations
| Gene Symbol | MPV17 |
|---|---|
| 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. |