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Gene Review

NDUFAF2  -  NADH dehydrogenase (ubiquinone) complex I,...

Homo sapiens

Synonyms: B17.2-like, B17.2L, MMTN, Mimitin, mitochondrial, Myc-induced mitochondrial protein, ...
 
 
 
 
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High impact information on NDUFA12L

  • We found a null mutation in B17.2L in a patient with a progressive encephalopathy and showed that the associated complex I assembly defect could be completely rescued by retroviral expression of B17.2L in patient fibroblasts [1].
  • Using whole genome subtraction of yeasts with and without a complex I to generate candidate assembly factors, we identified a paralogue (B17.2L) of the B17.2 structural subunit [1].

References

  1. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. Ogilvie, I., Kennaway, N.G., Shoubridge, E.A. J. Clin. Invest. (2005) [Pubmed]
 
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