Difference between revisions of "YJL180C"
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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<ref name='S000074615'>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 {{SGDpaper|S000074615}} PMID 14757859 | + | '''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<ref name='S000071135'>Ackerman SH (2002) Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria. Biochim Biophys Acta 1555(1-3):101-5 {{SGDpaper|S000071135}} PMID 12206899</ref><ref name='S000074615'>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 |
| − | + | {{SGDpaper|S000074615}} PMID 14757859</ref> | |
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Revision as of 14:05, 31 March 2009
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| Systematic name | YJL180C |
| Gene name | ATP12 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr X:88558..87581 |
| 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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- ↑ 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
- ↑ 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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