1.14.14.79: docosahexaenoic acid omega-hydroxylase
This is an abbreviated version!
For detailed information about docosahexaenoic acid omega-hydroxylase, go to the full flat file.
Word Map on EC 1.14.14.79
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1.14.14.79
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dystrophy
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bietty
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retinal
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corneoretinal
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fundus
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acuity
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chorioretinal
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electroretinography
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limbus
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full-field
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intraretinal
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hyperreflective
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glittering
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serpinc1
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perimetry
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crystalline-like
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choriocapillaris
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crystal-like
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cyp4z1
- 1.14.14.79
- dystrophy
-
bietty
- retinal
-
corneoretinal
-
fundus
-
acuity
-
chorioretinal
-
electroretinography
-
limbus
-
full-field
-
intraretinal
-
hyperreflective
-
glittering
-
serpinc1
-
perimetry
-
crystalline-like
-
choriocapillaris
-
crystal-like
-
cyp4z1
Reaction
Synonyms
CYP4F3B, CYP4V2, docosahexaenoic acid omega-hydroxylase, EC 1.14.13.199
ECTree
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Engineering on EC 1.14.14.79 - docosahexaenoic acid omega-hydroxylase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
H331P
the naturally occuring mutant protein CYP4V2 protein is expressed at high levels in ocular target tissues of patients with Biettis crystalline corneoretinal dystrophy. The enzyme is metabolically active toward polyunsaturated fatty acids. The functional deficit among patients with Biettis crystalline corneoretinal dystrophy who carry the H331P variant is most likely a consequence of the instability of the mutant protein
