BRENDA - Enzyme Database show
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)
740890
Erdol
An unusual case of LCHAD defic ...
Homo sapiens
J. Pediatr. Hematol. Oncol.
38
661-662
2016
-
-
1
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
741457
Cecatto
Disturbance of mitochondrial f ...
Rattus norvegicus, Rattus norvegicus Wistar
Toxicol. In Vitro
36
1-9
2016
-
-
-
-
-
-
-
-
2
-
-
-
-
7
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
740106
Hickmann
Uncoupling, metabolic inhibiti ...
Rattus norvegicus, Rattus norvegicus Wistar
Biochim. Biophys. Acta
1847
620-628
2015
-
-
-
-
-
-
-
-
2
-
-
2
-
7
-
-
-
-
-
3
-
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
3
-
-
2
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
740331
Malvagia
Heptadecanoylcarnitine (C17) a ...
Homo sapiens
Clin. Chim. Acta
450
342-348
2015
-
1
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
740438
Cecatto
Deregulation of mitochondrial ...
Rattus norvegicus
FEBS J.
282
4714-4726
2015
-
-
-
-
-
-
-
-
2
-
-
1
-
3
-
-
-
-
-
3
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
2
-
-
1
-
-
-
-
-
3
-
-
1
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
740557
Polinati
Patient-specific induced pluri ...
Homo sapiens
Invest. Ophthalmol. Vis. Sci.
56
3371-3382
2015
-
-
-
-
1
-
-
-
1
-
-
-
-
2
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
740832
Haglind
Increased and early lipolysis ...
Homo sapiens
J. Inherit. Metab. Dis.
38
315-322
2015
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
741474
Han
Expression of long chain fatty ...
Mus musculus
Zhonghua Yi Xue Za Zhi
95
26-29
2015
-
-
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
13
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
13
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
740102
Tonin
Mitochondrial bioenergetics de ...
Rattus norvegicus, Rattus norvegicus Wistar
Biochim. Biophys. Acta
1842
1658-1667
2014
-
-
-
-
-
-
-
-
2
-
-
2
-
7
-
-
-
-
-
3
-
-
2
-
1
-
-
-
1
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
2
-
-
2
-
-
-
-
-
3
-
-
2
-
1
-
-
-
1
-
-
-
1
2
2
1
-
-
740641
Tonin
Long-chain 3-hydroxy fatty aci ...
Rattus norvegicus, Rattus norvegicus Wistar
J. Bioenerg. Biomembr.
45
47-57
2013
-
-
-
-
-
-
-
-
1
-
-
2
-
6
-
-
-
-
-
1
-
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
1
-
-
2
-
-
-
-
-
1
-
-
2
-
-
-
-
-
-
-
-
-
-
2
2
-
-
-
741064
Anderson
When the usual symptoms become ...
Homo sapiens
Neonatal Netw.
32
262-273
2013
-
-
-
-
-
-
-
-
-
-
-
1
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
1
1
-
-
-
723341
Griffin
Mutations in long-chain 3-hydr ...
Homo sapiens
Pediatr. Dev. Pathol.
15
368-374
2012
-
-
-
-
2
-
-
-
1
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
1
-
-
-
1
-
-
1
-
-
-
-
-
-
1
-
2
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
1
-
-
-
-
1
1
-
-
-
696790
Ma
Production of two monomer stru ...
Pseudomonas putida, Pseudomonas putida KT 2240
Biores. Technol.
100
4891-4894
2009
-
1
1
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
710865
Park
Two novel HADHB gene mutations ...
Homo sapiens
Ann. Clin. Lab. Sci.
39
399-404
2009
-
1
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
686162
Law
A novel functional assay for s ...
Homo sapiens
Clin. Chim. Acta
382
25-30
2007
-
-
-
-
-
-
-
-
1
-
-
-
-
1
-
-
-
-
-
2
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
2
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
688119
Kong
No mutation was found in the a ...
Homo sapiens
J. Gastroenterol. Hepatol.
22
2107-2111
2007
-
-
1
-
1
-
-
-
1
-
-
1
-
2
-
-
-
-
-
1
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
1
-
-
1
-
-
-
-
-
1
-
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
670281
Gillingham
Effect of optimal dietary ther ...
Homo sapiens
Mol. Genet. Metab.
86
124-133
2005
-
-
-
-
1
-
-
-
-
-
-
1
-
2
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
670476
Oey
Long-chain fatty acid oxidatio ...
Homo sapiens
Pediatr. Res.
57
755-759
2005
-
-
-
-
-
-
-
-
1
-
-
1
-
3
-
-
-
-
-
11
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
1
-
-
-
-
-
11
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
656815
Jones
Effects of odd-numbered medium ...
Homo sapiens
Mol. Genet. Metab.
81
96-99
2004
-
1
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
656959
Rakheja
Evidence for fatty acid oxidat ...
Homo sapiens
Placenta
23
447-450
2002
-
1
-
-
-
-
-
-
-
-
-
-
-
2
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
288673
Middleton
The mitochondrial long-chain t ...
Homo sapiens
Biochem. Soc. Trans.
22
427-431
1994
-
-
-
-
-
-
-
-
1
-
-
-
-
1
-
-
1
-
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
286270
Carpenter
Human liver long-chain 3-hydro ...
Homo sapiens
Biochem. Biophys. Res. Commun.
183
443 - 448
1992
-
-
-
-
-
-
-
-
-
-
3
1
-
1
-
-
1
-
-
1
5
-
6
1
-
-
-
-
-
-
-
2
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
3
1
-
-
-
1
-
1
5
-
6
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
288681
Uchida
Novel fatty acid beta-oxidatio ...
Rattus norvegicus
J. Biol. Chem.
267
1034-1041
1992
-
-
-
-
-
-
-
2
2
-
3
-
-
2
-
-
1
-
-
2
1
-
1
1
-
-
-
-
-
-
-
1
-
-
-
-
-
-
1
-
-
-
-
-
-
2
2
-
3
-
-
-
-
1
-
2
1
-
1
1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
486411
Carpenter
A unique, membrane-bound, mult ...
Homo sapiens
Biochem. Soc. Trans.
21
35S
1992
-
-
-
-
-
-
-
-
-
-
-
1
-
1
-
-
-
-
-
1
1
-
5
-
-
-
-
-
-
-
-
2
-
-
-
-
-
-
2
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
1
1
-
5
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
286269
El-Fakhri
The existence of an inner-memb ...
Oryctolagus cuniculus, Rattus norvegicus
Biochim. Biophys. Acta
713
270-279
1982
2
-
-
-
-
-
2
-
2
-
1
-
-
2
-
-
-
-
-
4
2
-
10
-
-
-
-
-
-
-
-
4
-
-
-
2
-
-
4
-
-
-
-
2
-
-
2
-
1
-
-
-
-
-
-
4
2
-
10
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-