BRENDA - Enzyme Database show
show all sequences of 1.1.1.211

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Gillingham, M.B.; Weleber, R.G.; Neuringer, M.; Connor, W.E.; Mills, M.; van Calcar, S.; Ver Hoeve, J.; Wolff, J.; Harding, C.O.; Mol. Genet. Metab. 86, 124-133 (2005)

Data extracted from this reference:

Engineering
Amino acid exchange
Commentary
Organism
additional information
mutations, e.g. C901G, C1528G, or deletion of nucleotides 274 to 278, involved in development of the severe chorioretinopathy in humans which show only residual or no remaining enzyme activity, retinal phenotypes in enzyme deficient children, overview
Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
additional information
Homo sapiens
mutational LCHAD deficiency leads to accumulation of long-chain 3-hydroxyacylcarnitines and the severe chorioretinopathy, retinal phenotypes in enzyme deficient children, the progression of the disease can be prevented by a dietary therapy including supplementation with docosahexaenoic acid, DHA, overview
?
-
-
-
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
additional information
mutational LCHAD deficiency leads to accumulation of long-chain 3-hydroxyacylcarnitines and the severe chorioretinopathy, retinal phenotypes in enzyme deficient children, the progression of the disease can be prevented by a dietary therapy including supplementation with docosahexaenoic acid, DHA, overview
670281
Homo sapiens
?
-
-
-
-
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
additional information
mutations, e.g. C901G, C1528G, or deletion of nucleotides 274 to 278, involved in development of the severe chorioretinopathy in humans which show only residual or no remaining enzyme activity, retinal phenotypes in enzyme deficient children, overview
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
additional information
Homo sapiens
mutational LCHAD deficiency leads to accumulation of long-chain 3-hydroxyacylcarnitines and the severe chorioretinopathy, retinal phenotypes in enzyme deficient children, the progression of the disease can be prevented by a dietary therapy including supplementation with docosahexaenoic acid, DHA, overview
?
-
-
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
additional information
mutational LCHAD deficiency leads to accumulation of long-chain 3-hydroxyacylcarnitines and the severe chorioretinopathy, retinal phenotypes in enzyme deficient children, the progression of the disease can be prevented by a dietary therapy including supplementation with docosahexaenoic acid, DHA, overview
670281
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)
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 KT2442
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
-
-
-
-
-
-
-
-
-
-
-
1
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-