Difference between revisions of "YJL180C"
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| − | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Systematic name''' || [http:// | + | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Systematic name''' || [http://www.yeastgenome.org/cgi-bin/locus.pl?dbid=S000003716 YJL180C] |
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|valign="top" nowrap bgcolor="{{SGDblue}}"| '''Gene name''' ||''ATP12 '' | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Gene name''' ||''ATP12 '' | ||
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|valign="top" nowrap bgcolor="{{SGDblue}}"| '''Coordinates''' | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Coordinates''' | ||
| − | |nowrap| Chr X: | + | |nowrap| Chr X:88560..87583 |
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| + | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Primary SGDID''' || S000003716 | ||
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<br> | <br> | ||
| − | '''Description of | + | '''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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J Biol Chem 278(5):3265-74</ref> | J Biol Chem 278(5):3265-74</ref> | ||
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Latest revision as of 06:45, 23 January 2012
Share your knowledge...Edit this entry! <protect>
| 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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- ↑ 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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