1.2.1.48: long-chain-aldehyde dehydrogenase
This is an abbreviated version!
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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General Information
General Information on EC 1.2.1.48 - long-chain-aldehyde dehydrogenase
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evolution
malfunction
metabolism
physiological function
additional information
FALDH belongs to the superfamily of ALDHs, which are homooligomeric enzymes characterized by the presence of a cofactor-binding domain, a catalytic domain and a bridging domain involved in oligomerization. The C-terminal gatekeeper feature is conserved across membrane-associated aldehyde dehydrogenases
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ALDH3B1 does not cause further impairment of the sphingolipid metabolism in the ALDH3A2-deficient cells
malfunction
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deficiency in fatty aldehyde dehydrogenase causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental retardation
malfunction
mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjoegren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Impaired FALDH function alters the metabolic profiles of connected pathways, molecular mechanism of SLS-causing mutations, overview
metabolism
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the enzyme is involved in the first oxidation reaction of the phytosphingosine degradation pathway
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the likely physiological function of ALDH3B1 is to oxidize lipid-derived aldehydes generated in the plasma membrane
physiological function
ALDH3 family members (ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2 and ALDH3B3) are responsible for the removal of lipid-derived aldehydes
physiological function
ALDH3 family members (ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2 and ALDH3B3) are responsible for the removal of lipid-derived aldehydes. Isozyme ALDH3B2 probably acts to remove lipid-derived aldehydes in lipid droplets generated via oxidative stress as a quality control mechanism
the dimeric FALDH displays a an element in its C-terminal region, a gatekeeper helix, which extends over the adjacent subunit, controlling the access to the substrate cavity and helping orientate both substrate cavities towards the membrane surface for efficient substrate transit between membranes and catalytic site. The gatekeeper helix is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. Cys241 is the catalytic cysteine in the human enzyme
additional information
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the dimeric FALDH displays a an element in its C-terminal region, a gatekeeper helix, which extends over the adjacent subunit, controlling the access to the substrate cavity and helping orientate both substrate cavities towards the membrane surface for efficient substrate transit between membranes and catalytic site. The gatekeeper helix is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. Cys241 is the catalytic cysteine in the human enzyme