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Details on Person MCCC mutants don't synthesize beta-methylglutaconyl-CoA

Class:IdFailedReaction:9909466
_displayNameMCCC mutants don't synthesize beta-methylglutaconyl-CoA
_doReleaseTRUE
_timestamp2024-08-18 18:18:34
authored[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity[CatalystActivity:9914228] methylcrotonoyl-CoA carboxylase activity of MCCC mutant complexes [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9909458] Rothfels, Karen, 2024-05-13
disease[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
[Disease:9909434] 3-methylcrotonyl-CoA carboxylase deficiency
edited[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus[EntityFunctionalStatus:9914224] loss_of_function of MCCC mutant complexes [mitochondrial matrix]
input[SimpleEntity:70744] bMC-CoA [mitochondrial matrix]
[SimpleEntity:113593] ATP [mitochondrial matrix]
[SimpleEntity:29896] HCO3- [mitochondrial matrix]
internalReviewed[InstanceEdit:9917135] Stephan, Ralf, 2024-07-30
isChimericFALSE
literatureReference[LiteratureReference:9908641] The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism
[LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals
[LiteratureReference:9908611] Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
[LiteratureReference:9908581] 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening
[LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
[LiteratureReference:9908598] A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
[LiteratureReference:9908603] Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
[LiteratureReference:9908617] Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
[LiteratureReference:70749] Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
[LiteratureReference:9914206] Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl
modified[InstanceEdit:9914236] Rothfels, Karen, 2024-06-21
[InstanceEdit:9914251] Rothfels, Karen, 2024-06-22
[InstanceEdit:9916983] Rothfels, Karen, 2024-07-29
[InstanceEdit:9917208] Rothfels, Karen, 2024-07-31
[InstanceEdit:9917785] Rothfels, Karen, 2024-08-13
[InstanceEdit:9917787] Rothfels, Karen, 2024-08-13
[InstanceEdit:9918337] Rothfels, Karen, 2024-08-14
[InstanceEdit:9918923] Rothfels, Karen, 2024-08-18
[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
nameMCCC mutants don't synthesize beta-methylglutaconyl-CoA
normalReaction
previousReviewStatus[ReviewStatus:9821383] three stars
releaseDate2024-09-11
reviewed[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9909479] R-HSA-9909466.1
structureModified[InstanceEdit:9914236] Rothfels, Karen, 2024-06-21
summation[Summation:9914208] The following mutations in MCCC1 have been identified in pat...
(hasEvent)[Pathway:9909438] 3-Methylcrotonyl-CoA carboxylase deficiency [Homo sapiens]
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No pathways have been reviewed or authored by MCCC mutants don't synthesize beta-methylglutaconyl-CoA (9909466)
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