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CYP11B2 mutants [mitochondrial inner membrane]
Stable Identifier
R-HSA-5600661
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP11B2 causes CMO-1 deficiency (Homo sapiens)
Defective CYP11B2 does not oxidise 11DCORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
Defective CYP11B2 does not oxidise 18HCORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
Defective CYP11B2 does not oxidise CORST (Homo sapiens)
CYP11B2 mutants [mitochondrial inner membrane] (Homo sapiens)
Participants
members
CYP11B2 R141_L142dup [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 E255* [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 L461P [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 R181W [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 T185I [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 T498A [mitochondrial inner membrane]
(Homo sapiens)
CYP11B2 V386A [mitochondrial inner membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
steroid inherited metabolic disorder
DOID:1701
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