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CYP27A1 mutants [mitochondrial matrix]
Stable Identifier
R-HSA-5602102
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
mitochondrial matrix
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP27A1 causes CTX (Homo sapiens)
CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol (Homo sapiens)
CYP27A1 mutants [mitochondrial matrix] (Homo sapiens)
Defective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol (Homo sapiens)
CYP27A1 mutants [mitochondrial matrix] (Homo sapiens)
Participants
members
CYP27A1 A216P [mitochondrial matrix]
(Homo sapiens)
CYP27A1 R474Q [mitochondrial matrix]
(Homo sapiens)
CYP27A1 R474W [mitochondrial matrix]
(Homo sapiens)
CYP27A1 T339M [mitochondrial matrix]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
cerebrotendinous xanthomatosis
DOID:4810
cerebrotendinous xanthomatosis, Cholestanol storage disease (disorder)
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