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CYP21A2 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5601989
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 CYP21A2 causes Adrenal hyperplasia 3 (AH3) (Homo sapiens)
Defective CYP21A2 does not 21-hydroxylate PROG (Homo sapiens)
CYP21A2 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
CYP21A2 E380D [endoplasmic reticulum membrane] (Homo sapiens)
CYP21A2 G292S [endoplasmic reticulum membrane] (Homo sapiens)
CYP21A2 Q318* [endoplasmic reticulum membrane] (Homo sapiens)
CYP21A2 V237E [endoplasmic reticulum membrane] (Homo sapiens)
CYP21A2 W406* [endoplasmic reticulum membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
adrenal gland disease
9553
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