1.14.11.18: phytanoyl-CoA dioxygenase
This is an abbreviated version!
For detailed information about phytanoyl-CoA dioxygenase, go to the full flat file.
Word Map on EC 1.14.11.18
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1.14.11.18
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peroxisomal
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refsum
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alpha-oxidation
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zellweger
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pigmentosa
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beta-oxidation
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3,7,11,15-tetramethylhexadecanoic
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punctata
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pipecolic
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rhizomelic
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pristanic
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2-hydroxyphytanoyl-coa
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chondrodysplasia
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2-hydroxylation
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anosmia
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3-methyl
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phytol
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3-methyl-branched
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cerebro-hepato-renal
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2-oxoglutarate-dependent
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diagnostics
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medicine
- 1.14.11.18
- peroxisomal
- refsum
-
alpha-oxidation
- zellweger
-
pigmentosa
-
beta-oxidation
-
3,7,11,15-tetramethylhexadecanoic
- punctata
-
pipecolic
-
rhizomelic
-
pristanic
- 2-hydroxyphytanoyl-coa
-
chondrodysplasia
-
2-hydroxylation
-
anosmia
-
3-methyl
- phytol
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3-methyl-branched
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cerebro-hepato-renal
-
2-oxoglutarate-dependent
- diagnostics
- medicine
Reaction
Synonyms
PAHX, PhyH, PHYHD1, Phytanic acid oxidase, phytanoyl-CoA 2-hydroxylase, Phytanoyl-CoA alpha-hydroxylase, phytanoyl-CoA dioxygenase domain containing protein 1, phytanoyl-CoA hydroxylase
ECTree
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diagnostics
assays for Refsums disease should not be based on PAHX activity alone. At least four different types of mutation cause loss of PAHX activity in vivo. Mutations to the peroxisomal targeting sequence do not affect catalytic function but probably affect targeting or degradation of the enzyme. A second group of mutations, including truncation and missense mutations, results in total loss of activity. A third group of mutations results in uncoupling of substrate oxidation from that of 2-oxoglutarate. A fourth group of mutations causes partial inactivation by hindering binding/utilization of the 2-oxoglutarate cosubstrate and/or iron(II) cofactor. From the therapeutic and biochemical view-point the latter two groups are particularly interesting since it may be possible to restore their activity with modified cosubstrates
diagnostics
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the substrate phytanoyl-CoA is difficult to handle because of its amphipathic properties. Commercially available alternative substrates, such as hexadecanoyl-CoA or isovaleryl-CoA are potentially usefull