NDUFAF5
Gene name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 5OMIM ID: 612360
Chromosome location: 20p12.1
Mutations
| Disease/Phenotype | Leigh syndrome |
|---|---|
| Reference transcript | NM_024120.4 |
| DNA Change | c.477A>C |
| A.A. Change | p.Leu159Phe |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ.Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet. 2010 Aug;47(8):507-12. |