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show all sequences of 1.1.1.211

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency

Park, H.D.; Kim, S.R.; Ki, C.S.; Lee, S.Y.; Chang, Y.S.; Jin, D.K.; Park, W.S.; Ann. Clin. Lab. Sci. 39, 399-404 (2009)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
case study on a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure and an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, at 0.44 nmol/ml, 3-hydroxylinoleylcarnitine, at 0.31 nmol/ml, and 3-hydroxyoleylcarnitine, at 0.51 nmol/ml. The findings suggest either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. The patient was a compound heterozygote for c.358dupT and c.1364T>G mutations. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 months after birth due to advanced cardiac failure
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Subunits
Subunits
Commentary
Organism
More
enzyme is part of mitochondrial trifunctional protein MTP. Mitochondrial trifunctional protein is a heterocomplex composed of 4 alpha-subunits containing long-chain 2,3-enoyl-CoA hydratase and long-chain 3-hydroxyacyl CoA dehydrogenase activity, and 4 beta-subunits that harbor long-chain 3-ketoacyl-CoA thiolase activity
Homo sapiens
Application (protein specific)
Application
Commentary
Organism
medicine
case study on a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure and an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, at 0.44 nmol/ml, 3-hydroxylinoleylcarnitine, at 0.31 nmol/ml, and 3-hydroxyoleylcarnitine, at 0.51 nmol/ml. The findings suggest either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. The patient was a compound heterozygote for c.358dupT and c.1364T>G mutations. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 months after birth due to advanced cardiac failure
Homo sapiens
Subunits (protein specific)
Subunits
Commentary
Organism
More
enzyme is part of mitochondrial trifunctional protein MTP. Mitochondrial trifunctional protein is a heterocomplex composed of 4 alpha-subunits containing long-chain 2,3-enoyl-CoA hydratase and long-chain 3-hydroxyacyl CoA dehydrogenase activity, and 4 beta-subunits that harbor long-chain 3-ketoacyl-CoA thiolase activity
Homo sapiens
Other publictions for EC 1.1.1.211
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [°C]
Temperature Range [°C]
Temperature Stability [°C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [°C] (protein specific)
Temperature Range [°C] (protein specific)
Temperature Stability [°C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
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Griffin
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696790
Ma
Production of two monomer stru ...
Pseudomonas putida, Pseudomonas putida KT2442
Biores. Technol.
100
4891-4894
2009
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710865
Park
Two novel HADHB gene mutations ...
Homo sapiens
Ann. Clin. Lab. Sci.
39
399-404
2009
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686162
Law
A novel functional assay for s ...
Homo sapiens
Clin. Chim. Acta
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Kong
No mutation was found in the a ...
Homo sapiens
J. Gastroenterol. Hepatol.
22
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2007
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670281
Gillingham
Effect of optimal dietary ther ...
Homo sapiens
Mol. Genet. Metab.
86
124-133
2005
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Oey
Long-chain fatty acid oxidatio ...
Homo sapiens
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755-759
2005
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11
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656815
Jones
Effects of odd-numbered medium ...
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Mol. Genet. Metab.
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Homo sapiens
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Middleton
The mitochondrial long-chain t ...
Homo sapiens
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427-431
1994
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183
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1992
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486411
Carpenter
A unique, membrane-bound, mult ...
Homo sapiens
Biochem. Soc. Trans.
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286269
El-Fakhri
The existence of an inner-memb ...
Oryctolagus cuniculus, Rattus norvegicus
Biochim. Biophys. Acta
713
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1982
2
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10
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