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Details on Person The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Class:Id	LiteratureReference:70761
_displayName	The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
_timestamp	2003-10-30 07:40:01
author	[Person:70762] Baumgartner, MR [Person:70625] Almashanu, Shlomo [Person:70763] Suormala, T [Person:70621] Obie, Cassandra [Person:70764] Cole, RN [Person:70765] Packman, S [Person:70766] Baumgartner, ER [Person:70630] Valle, David
journal	J Clin Invest
pages	495-504
pubMedIdentifier	11181649
title	The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
volume	107
year	2001
(literatureReference)	[EntityWithAccessionedSequence:9908652] D532H Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9908666] L437P Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9909439] S173L MCCC2 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9909455] V339M MCCC2 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9909463] E99Q MCCC2 [mitochondrial matrix] [Homo sapiens] [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] [Pathway:9909438] 3-Methylcrotonyl-CoA carboxylase deficiency [Homo sapiens] [FailedReaction:9909466] MCCC mutants don't synthesize beta-methylglutaconyl-CoA [Homo sapiens]
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