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Details on Person Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
| Class:Id | LiteratureReference:70749 |
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| _displayName | Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency |
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| _timestamp | 2003-10-30 07:40:01 |
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| author | [Person:70750] Holzinger, A
[Person:77164] Röschinger, W
[Person:70752] Lagler, F
[Person:70753] Mayerhofer, PU
[Person:70754] Lichtner, P
[Person:70755] Kattenfeld, T
[Person:70756] Thuy, LP
[Person:70757] Nyhan, WL
[Person:70758] Koch, HG
[Person:70759] Muntau, AC
[Person:70760] Roscher, AA |
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| journal | Hum Mol Genet |
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| pages | 1299-306 |
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| pubMedIdentifier | 11406611 |
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| title | Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. |
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| volume | 10 |
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| year | 2001 |
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| (literatureReference) | [CatalystActivityReference:9643717] methylcrotonoyl-CoA carboxylase activity of 6x(Btn-MCCC1:MCCC2) [mitochondrial matrix] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
[Reaction:70773] beta-methylcrotonyl-CoA + ATP + HCO3- <=> beta-methylglutaconyl-CoA + ADP + orthophosphate + H2O (MCCA) [Homo sapiens]
[Reaction:508308] beta-methylglutaconyl-CoA + ADP + orthophosphate <=> beta-methylcrotonyl-CoA + ATP + HCO3- (MCCA) [Homo sapiens]
[FailedReaction:9909466] MCCC mutants don't synthesize beta-methylglutaconyl-CoA [Homo sapiens]
[EntityWithAccessionedSequence:9908680] S535F Btn-MCCC1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9908683] V694* Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] |
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