BRENDA - Enzyme Database show
show all sequences of 1.1.1.211

Mutations in long-chain 3-hydroxyacyl coenzyme A dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition

Griffin, A.C.; Strauss, A.W.; Bennett, M.J.; Ernst, L.M.; Pediatr. Dev. Pathol. 15, 368-374 (2012)

Data extracted from this reference:

Engineering
Amino acid exchange
Commentary
Organism
additional information
identifications of gestation infant mutations in LCHAD, the placentas with maternal floor infarction/massive perivillous fibrin phenotype, MFI/MPVFD, demonstrate heterozygous mutations in the LCHAD gene, phenotypes, overview
Homo sapiens
Q358K
heterozygous mutation in exon 11, 1072C/A, a naturally mutation occuring in the LCHAD coding region, HADHA, causing growth-restriction in a 25-4/7 week gestation female infant
Homo sapiens
Localization
Localization
Commentary
Organism
GeneOntology No.
Textmining
mitochondrion
-
Homo sapiens
5739
-
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Temperature Optimum [C]
Temperature Optimum [C]
Temperature Optimum Maximum [C]
Commentary
Organism
37
-
assay at
Homo sapiens
pH Optimum
pH Optimum Minimum
pH Optimum Maximum
Commentary
Organism
7.2
-
assay at
Homo sapiens
Cofactor
Cofactor
Commentary
Organism
Structure
NAD+
-
Homo sapiens
Cofactor (protein specific)
Cofactor
Commentary
Organism
Structure
NAD+
-
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
additional information
identifications of gestation infant mutations in LCHAD, the placentas with maternal floor infarction/massive perivillous fibrin phenotype, MFI/MPVFD, demonstrate heterozygous mutations in the LCHAD gene, phenotypes, overview
Homo sapiens
Q358K
heterozygous mutation in exon 11, 1072C/A, a naturally mutation occuring in the LCHAD coding region, HADHA, causing growth-restriction in a 25-4/7 week gestation female infant
Homo sapiens
Localization (protein specific)
Localization
Commentary
Organism
GeneOntology No.
Textmining
mitochondrion
-
Homo sapiens
5739
-
Temperature Optimum [C] (protein specific)
Temperature Optimum [C]
Temperature Optimum Maximum [C]
Commentary
Organism
37
-
assay at
Homo sapiens
pH Optimum (protein specific)
pH Optimum Minimum
pH Optimum Maximum
Commentary
Organism
7.2
-
assay at
Homo sapiens
General Information
General Information
Commentary
Organism
malfunction
the placenta of an 8-month-old child diagnosed with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency shows maternal floor infarction/massive perivillous fibrin, MFI/MPVFD, phenotype, overview
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
malfunction
the placenta of an 8-month-old child diagnosed with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency shows maternal floor infarction/massive perivillous fibrin, MFI/MPVFD, phenotype, overview
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
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696790
Ma
Production of two monomer stru ...
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Law
A novel functional assay for s ...
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Kong
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Effect of optimal dietary ther ...
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Oey
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Homo sapiens
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656815
Jones
Effects of odd-numbered medium ...
Homo sapiens
Mol. Genet. Metab.
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656959
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Evidence for fatty acid oxidat ...
Homo sapiens
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Middleton
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Homo sapiens
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The existence of an inner-memb ...
Oryctolagus cuniculus, Rattus norvegicus
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1982
2
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2
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10
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4
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