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CYP2U1 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602201
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP2U1 causes SPG56 (Homo sapiens)
Defective CYP2U1 does not omega-hydroxylate ARA (Homo sapiens)
CYP2U1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
CYP2U1 C262R [endoplasmic reticulum membrane]
(Homo sapiens)
CYP2U1 D316V [endoplasmic reticulum membrane]
(Homo sapiens)
CYP2U1 E380G [endoplasmic reticulum membrane]
(Homo sapiens)
CYP2U1 L21Wfs*19 [endoplasmic reticulum membrane]
(Homo sapiens)
CYP2U1 R488W [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
hereditary spastic paraplegia
DOID:2476
Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
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