YJL180C

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Systematic name YJL180C
Gene name ATP12
Aliases
Feature type ORF, Verified
Coordinates Chr X:88560..87583
Primary SGDID S000003716


Description of YJL180C: Conserved protein required for assembly of alpha and beta subunits into the F1 sector of mitochondrial F1F0 ATP synthase; mutation of human ATP12 reduces active ATP synthase levels and is associated with the disorder ATPAF2 deficiency[1][2]




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References

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  1. Ackerman SH (2002) Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria. Biochim Biophys Acta 1555(1-3):101-5 SGD PMID 12206899
  2. De Meirleir L, et al. (2004) Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 41(2):120-4 SGD PMID 14757859

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