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CYP11A1 mutants [mitochondrial matrix]
Stable Identifier
R-HSA-5580242
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 CYP11A1 causes AICSR (Homo sapiens)
Defective CYP11A1 does not cleave 20a,22b-DHCHOL (Homo sapiens)
CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix] (Homo sapiens)
CYP11A1 mutants [mitochondrial matrix] (Homo sapiens)
Participants
members
CYP11A1 I287Yfs*10 [mitochondrial matrix]
(Homo sapiens)
CYP11A1 V415E [mitochondrial matrix]
(Homo sapiens)
CYP11A1 D271_V272insGD [mitochondrial matrix]
(Homo sapiens)
Participates
as a component of
CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix] (Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital adrenal insufficiency
DOID:0050546
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY
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