1.2.1.48: long-chain-aldehyde dehydrogenase
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For detailed information about long-chain-aldehyde dehydrogenase, go to the full flat file.
Word Map on EC 1.2.1.48
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1.2.1.48
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sls
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ichthyosis
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spastic
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faldh
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aldh3a2
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neurocutaneous
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diplegia
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tetraplegia
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sjogren-larsson
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amadhs
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phytanic
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aminoaldehyde
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photophobia
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larsson
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quadriplegia
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alcohol:nad+
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glistening
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medicine
- 1.2.1.48
- sls
- ichthyosis
- spastic
- faldh
- aldh3a2
-
neurocutaneous
- diplegia
- tetraplegia
-
sjogren-larsson
- amadhs
-
phytanic
- aminoaldehyde
-
photophobia
-
larsson
- quadriplegia
-
alcohol:nad+
-
glistening
- medicine
Reaction
Synonyms
ALDH, ALDH10, ALDH3A2, Aldh3b1, ALDH3B2, ALDH3B3, Bt-Aldh, dehydrogenase, long-chain aliphatic aldehyde, FAldDH, FALDH, fatty aldehyde dehydrogenase, fatty aldehyde:NAD+ oxidoreductase, long-chain aldehyde dehydrogenase, long-chain fatty aldehyde dehydrogenase, long-chain-aldehyde dehydrogenase, membrane-bound fatty aldehyde dehydrogenase
ECTree
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Application on EC 1.2.1.48 - long-chain-aldehyde dehydrogenase
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medicine
medicine
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FALDH activity is induced 1.4fold after a 3-day treatment with 0.8 mM bezafibrate in fibroblasts of control subjects. In fibroblasts of two Sjögren-Larsson patients homozygous for the p.R228C substitution, FALDH activity could by induced to 37% of control values by bezafibrate treatment. mRNA analysis in fibroblasts of these patients also reveals a mean 1.8fold induction of FALDH mRNA after bezafibrate treatment. No induction is observed in fibroblasts of patients with mutations that cause instability of FALDH mRNA or that result in a protein without any residual activity
medicine
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direct link between FALDH inactivation and disease pathology of Sjögren-Larsson syndrome caused by accumulation of alcohols