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EC Tree
The taxonomic range for the selected organisms is: Homo sapiens The expected taxonomic range for this enzyme is: Bacteria, Eukaryota, Archaea
Synonyms
3-methylglutaconyl-coa hydratase, 3-mgcoa-h, at4g16800, 3-methylglutaconyl coa hydratase, 3-mg-coa, methylglutaconyl-coa hydratase, (3s)-methylglutaconyl-coa hydratase, au rna binding protein/enoyl-coenzyme a hydratase,
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3-methylglutaconyl CoA hydratase
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3-methylglutaconyl-CoA hydratase
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AU RNA binding protein/enoyl-Coenzyme A hydratase
enzyme also possesses an RNA-binding activity to AUUU repeats
3-methylglutaconyl CoA hydratase
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3-methylglutaconyl-CoA hydratase
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HMG-CoA hydrolyase
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hydratase, methylglutaconyl coenzyme A
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methylglutaconase
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methylglutaconyl coenzyme A hydratase
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(S)-3-hydroxy-3-methylglutaryl-CoA hydro-lyase (trans-3-methylglutaconyl-CoA-forming)
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(E)-3-methylglutaconyl-1-CoA
?
different co-substrates tested
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-
?
(E)-glutaconyl-CoA
?
different co-substrates tested
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-
?
(R,S)-3-hydroxy-3-methylglutaryl-CoA
?
different co-substrates tested
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-
?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
3-hydroxybutyryl-CoA
?
different co-substrates tested
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-
?
3-methylcrotonyl-CoA
?
different co-substrates tested
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-
?
crotonyl-CoA
?
different co-substrates tested
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-
?
trans-3-methylglutaconyl-CoA + H2O
(S)-3-hydroxy-3-methylglutaryl-CoA
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-
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?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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penultimate step in Leu catabolism
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-
?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
trans-3-methylglutaconyl-CoA + H2O
(S)-3-hydroxymethylglutaryl-CoA
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-
-
?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
catalyzes fifth step in the leucine degradation pathway
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
fifth step in the leucine degradation pathway
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
four types of the human disease 3-methylglutaconic aciduria distinguished, only form I is due to deficient activity of 3-methylglutaconyl-CoA hydratase leading to accumulation of 3-methylglutaconate
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
leucine degradation pathway, human AUH gene encoding a bifunctional enzyme with RNA-binding activity and enoyl-CoA-hydratase activity
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
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r
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(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
trans-3-methylglutaconyl-CoA + H2O
(S)-3-hydroxy-3-methylglutaryl-CoA
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?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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penultimate step in Leu catabolism
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-
?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
catalyzes fifth step in the leucine degradation pathway
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?
(S)-3-hydroxy-3-methylglutaryl-CoA
trans-3-methylglutaconyl-CoA + H2O
fifth step in the leucine degradation pathway
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?
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acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
Acidosis, Lactic
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Barth Syndrome
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Cardiomyopathy, Dilated
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
Cardiomyopathy, Hypertrophic
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Cataract
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Dehydration
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria.
Heart Failure
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
hydroxymethylglutaryl-coa lyase deficiency
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
hydroxymethylglutaryl-coa lyase deficiency
Screening for defects of branched-chain amino acid metabolism.
isovaleryl-coa dehydrogenase deficiency
Screening for defects of branched-chain amino acid metabolism.
Metabolic Diseases
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
methylglutaconyl-coa hydratase deficiency
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylglutaconyl-coa hydratase deficiency
[3-Methylglutaconyl-CoA hydratase deficiency]
Starvation
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria.
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0.0083
(E)-3-methylglutaconyl-CoA
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0.0024
(E)-glutaconyl-CoA
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2.25
(R,S)-3-hydroxy-3-methylglutaryl-CoA
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55.2
3-hydroxybutyryl-CoA
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0.347
3-methylcrotonyl-CoA
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0.0069 - 0.0094
(S)-3-hydroxymethylglutaryl-CoA
additional information
additional information
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0.0069
(S)-3-hydroxymethylglutaryl-CoA
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fibroblast enzyme
0.0094
(S)-3-hydroxymethylglutaryl-CoA
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lymphocyte enzyme
additional information
additional information
kinetic constants determined by HPLC and mass spectrometry, assay conditions indicated
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additional information
additional information
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kinetic constants determined by HPLC and mass spectrometry, assay conditions indicated
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5.1
(E)-3-methylglutaconyl-CoA
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0.26
(R,S)-3-hydroxy-3-methylglutaryl-CoA
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1.7
3-hydroxybutyryl-CoA
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2.9
3-methylcrotonyl-CoA
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additional information
additional information
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additional information
additional information
kinetic constants determined by HPLC and mass spectrometry
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additional information
additional information
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kinetic constants determined by HPLC and mass spectrometry
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additional information
activity of 3-methylglutaconyl-CoA hydratase measured in fibroblasts within normal limits in all patients, urinary organic acid analysis determined by HPLC or mass spectrometry, increase of 3-methylglutaconic acid in all cases, and 3-methylglutaric acid in four out five patients, three novel subtypes of the diseease 3-methylglutaconic aciduria not coupled to impaired activity of 3-methylglutaconyl-CoA hydratase
additional information
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activity of 3-methylglutaconyl-CoA hydratase measured in fibroblasts within normal limits in all patients, urinary organic acid analysis determined by HPLC or mass spectrometry, increase of 3-methylglutaconic acid in all cases, and 3-methylglutaric acid in four out five patients, three novel subtypes of the diseease 3-methylglutaconic aciduria not coupled to impaired activity of 3-methylglutaconyl-CoA hydratase
additional information
direct nonisotopic activity assay in human skin fibroblast homogenates developed, products analyzed by HPLC, AUH-decifiency by mutations reveals 9% of the wild-type enzyme activity and increased levels of 3-methylglutaric acid and 3-hydroxyisovaleric acid
additional information
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direct nonisotopic activity assay in human skin fibroblast homogenates developed, products analyzed by HPLC, AUH-decifiency by mutations reveals 9% of the wild-type enzyme activity and increased levels of 3-methylglutaric acid and 3-hydroxyisovaleric acid
additional information
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highly sensitive assay method, that allows reliable determination of enzyme activity in crude extract
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7 - 7.4
kinetic constants determined at pH 7.4, direct nonisotopic activity assay in human skin fibroblasts at pH 7.0
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37
activity assay in human skin fibroblasts at
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SwissProt
brenda
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brenda
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cultured
brenda
activity of 3-methylglutaconyl-CoA hydratase measured
brenda
direct activity assay in fibroblast homogenates
brenda
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brenda
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skin
brenda
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brenda
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brenda
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malfunction
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enzyme deficiency, due to homozygous deletion of exons 1-3 within the AUH gene, leads to 3-methylglutaconic aciduria type I with phenotypic heterogeneity, e.g. learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy or severe expressive speech delay and delay in speech sound development with normal cognitive functions, overview
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AUHM_HUMAN
339
0
35609
Swiss-Prot
Mitochondrion (Reliability: 4 )
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221400
mass spectroscopy, in the presence of a long RNA containing 24 repeats of the AUUU motif, (AUUU)24A
89980
mass spectroscopy, RNA free AUH
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dimer or trimer
AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)24A, determined by mass-spectroscopy
trimer
mainly exists as a trimer in solution, determined by mass-spectroscopy
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AUH is crystallized with a long RNA containing 24 repeats of the AUUU motif. AUH structure is determined as an asymmetric dimer of trimers with a kink in the alignment of the trimer axes, resulting in the formation of two clefts with significantly different sizes
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A240V
site-directed mutagenesis, nucleotide exchange C719T
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gel-filtration and SDS-PAGE
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overexpression in Escherichia coli using the pMAL-c2 expression vector
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medicine
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sensitive and specific enzymatic assay for 3-methylglutaconyl-CoA hydratase that enables the rapid enzymatic diagnosis of 3-methylglutaconic aciduria type I in cultured skin fibroblasts without the need for radiochemicals
medicine
studies on the metabolic disease 3-methylglutaconic aciduria
medicine
studies on the metabolic disease 3-methylglutaconic aciduria type I, characterized by abnormal organic acid profile and excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid
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Gibson, K.M.
Assay of 3-methylglutaconyl-CoA hydratase
Methods Enzymol.
166
214-218
1988
Homo sapiens
brenda
Gibson, K.M.
3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case
J. Inherit. Metab. Dis.
15
363-366
1992
Homo sapiens
brenda
Narisawa, K.; Gibson, K.M.; Sweetman, L.; Nyhan, W.L.
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection
Clin. Chim. Acta
184
57-64
1989
Homo sapiens
brenda
Loupatty, F.J.; Ruiter, J.P.N.; Ijlst, L.; Duran, M.; Wanders, R.J.A.
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I
Clin. Chem.
50
1447-1450
2004
Homo sapiens
brenda
Mack, M.; Schniegler-Mattox, U.; Peters, V.; Hoffmann, G.F.; Liesert, M.; Buckel, W.; Zschocke, J.
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
FEBS J.
273
2012-2022
2006
Homo sapiens (Q13825), Homo sapiens
brenda
Di Rosa, G.; Deodato, F.; Loupatty, F.J.; Rizzo, C.; Carrozzo, R.; Santorelli, F.M.; Boenzi, S.; DAmico, A.; Tozzi, G.; Bertini, E.; Maiorana, A.; Wanders, R.J.; Dionisi-Vici, C.
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
J. Inherit. Metab. Dis.
29
546-550
2006
Homo sapiens (Q13825), Homo sapiens
brenda
Kurimoto, K.; Kuwasako, K.; Sandercock, A.; Unzai, S.; Robinson, C.; Muto, Y.; Yokoyama, S.
AU-rich RNA-binding induces changes in the quaternary structure of AUH
Proteins
75
360-372
2009
Homo sapiens (Q13825), Homo sapiens
brenda
Mercimek-Mahmutoglu, S.; Tucker, T.; Casey, B.
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion
Mol. Genet. Metab.
104
410-413
2011
Homo sapiens
brenda
Su, B.; Ryan, R.O.
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective
J. Inherit. Metab. Dis.
37
359-368
2014
Homo sapiens (Q13825)
brenda