1.3.8.8: long-chain acyl-CoA dehydrogenase
This is an abbreviated version!
For detailed information about long-chain acyl-CoA dehydrogenase, go to the full flat file.
Word Map on EC 1.3.8.8
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1.3.8.8
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medium-chain
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beta-oxidation
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carnitine
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acylcarnitine
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cardiomyopathy
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cardiac
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peroxisome
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triglyceride
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rhabdomyolysis
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hypoglycemia
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acadvl
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palmitoyltransferase
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proliferator-activated
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inborn
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trifunctional
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nbs
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3-hydroxyacyl-coa
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acidurias
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myopathic
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hypoketotic
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glutaric
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myoglobinuria
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dehydrogenase-deficient
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isovaleryl-coa
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bezafibrate
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lchad
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faods
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medicine
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mcadd
- 1.3.8.8
-
medium-chain
-
beta-oxidation
- carnitine
- acylcarnitine
- cardiomyopathy
- cardiac
- peroxisome
- triglyceride
- rhabdomyolysis
- hypoglycemia
- acadvl
- palmitoyltransferase
-
proliferator-activated
-
inborn
-
trifunctional
- nbs
- 3-hydroxyacyl-coa
- acidurias
-
myopathic
-
hypoketotic
-
glutaric
- myoglobinuria
-
dehydrogenase-deficient
- isovaleryl-coa
- bezafibrate
- lchad
-
faods
- medicine
-
mcadd
Reaction
Synonyms
ACAD 9, AcdB, acyl-CoA dehydrogenase 9, BACH, CTE-II, EC 1.3.99.13, EC 1.3.99.3, LCAD, long chain acyl coenzyme A dehydrogenase, long chain acyl-CoA dehydrogenase, long-chain acyl-CoA dehydrogenase, long-chain acyl-CoA hydrolase, long-chain acyl-coenzyme A dehydrogenase, MCAD, medium long-chain acyl-CoA dehydrogenase, More, MTE-II, palmitoyl-CoA dehydrogenase, palmitoyl-coenzyme A dehydrogenase, PtmO4, type-II acyl-CoA thioesterase, very long chain acyl-CoA dehydrogenase, very long-chain acyl-CoA dehydrogenase, very-long-chain acyl-CoA dehydrogenase, very-long-chain acyl-coenzyme A dehydrogenase, VLCAD, VLMCAD
ECTree
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Engineering
Engineering on EC 1.3.8.8 - long-chain acyl-CoA dehydrogenase
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997insT
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frameshift, heterozygote mutation of exon 10, mutation of a myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency
A450P
A985G
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nearly all patients with residual MCAD activities below 2.5% are homozygous 985A>G carriers
L462P
R429W
R573W
T199C
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all patients with the 199T>C mutation have residual activities above 10%
T220M
V243A
additional information
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mutant shows normal wild type activity and greatly reduced mitochondrial membrane association
A450P
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unpurified recombinant enzyme shows increased activity, pure mutant enzyme has wild type activity
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in the pure form, mutant has roughly 30% of wild type activity and greatly reduced mitochondrial membrane association
L462P
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unpurified recombinant enzyme shows increased activity, pure mutant enzyme has 30% activity compared to the wild type enzyme
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mutant shows 0.2% of wild type activity, the mutation leads to a severe form of VLCAD deficiency
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mutant shows 3% of wild type activity, the mutation leads to a mild form of VLCAD deficiency
T220M
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shows 3% of wild type activity, the mutation is observed in the mild form of VLCAD deficiency
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mutant shows 22% of wild type activity, the mutation leads to a mild form of VLCAD deficiency
V243A
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shows 22% of wild type activity, the mutation is observed in the mild form of VLCAD deficiency
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VLCAD deficient fibroblasts and pCMV-hVLCAD transiently transfected VLCAD deficient fibroblasts, show antibody specificity, transfected fibroblasts show correction of the metabolic block as demonstrated by normalization of C14- and C16-acylcarnitine species in cell culture media and restoration of VLCAD activity in cells
additional information
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construction of null mutant mouse embryos, analysis of developmental competence, at blastocyst transition, the homozygous null mutants do not survive, while the homozygous wild-types continue the normal development, and the heterozygous embryos show an intermediate cavitation rate, addition of fatty acids complexed to albumin into the medium, the deficient embryos survive and overcome the deficiency, overview
additional information
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VLCAD deficiency alters expression of Ca2+ regulatory proteins