ATPAF2

Gene name: ATP synthase mitochondrial F1 complex assembly factor 2
OMIM ID: 608918
Chromosome location: 17p11.2

Mutations

Disease/Phenotype	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Reference transcript	NM_145691.3
DNA Change	c.280T>A
A.A. Change	p.Trp94Arg
Exon/Intron	exon 3
Mutation Type	substitution
Reference	De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R.Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4.

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