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