Difference between revisions of "YDR375C"
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| − | '''Description of YDR375C:''' | + | '''Description of YDR375C:''' Mitochondrial protein of the AAA ATPase family; has ATP-dependent chaperone activity; required for assembly of Rip1p and Qcr10p into cytochrome bc(1) complex; mutations in human homolog BCS1L are linked to neonatal mitochondrial diseases<ref name='S000061850'>Cruciat CM, et al. (1999) Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. EMBO J 18(19):5226-33 {{SGDpaper|S000061850}} PMID 10508156</ref><ref name='S000134162'>Tuppen HA, et al. (2010) Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab () |
| − | {{SGDpaper| | + | {{SGDpaper|S000134162}} PMID 20472482</ref> |
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Revision as of 13:05, 4 June 2010
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| Systematic name | YDR375C |
| Gene name | BCS1 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr IV:1226529..1225159 |
| Primary SGDID | S000002783 |
Description of YDR375C: Mitochondrial protein of the AAA ATPase family; has ATP-dependent chaperone activity; required for assembly of Rip1p and Qcr10p into cytochrome bc(1) complex; mutations in human homolog BCS1L are linked to neonatal mitochondrial diseases[1][2]
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References
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- ↑ Cruciat CM, et al. (1999) Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. EMBO J 18(19):5226-33 SGD PMID 10508156
- ↑ Tuppen HA, et al. (2010) Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab () SGD PMID 20472482
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