Difference between revisions of "YJL180C"

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==Community Commentary==
 
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==References==
 
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Revision as of 07:17, 30 January 2007

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Systematic name YJL180C
Gene name ATP12
Aliases
Feature type ORF, Verified
Coordinates Chr X:88558..87581


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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Community Commentary

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References

See Help:References on how to add references

  1. 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
  2. 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

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