Reactome | CYP27A1 mutants [mitochondrial matrix]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:9631794] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix] [CatalystActivity:9631899] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
crossReference	[DatabaseIdentifier:12020866] Mondo:0008948
dbId	5602102
disease	[Disease:5602095] cerebrotendinous xanthomatosis
displayName	CYP27A1 mutants [mitochondrial matrix]
hasMember	[EntityWithAccessionedSequence:R-HSA-5602094] CYP27A1 A216P [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602198] CYP27A1 R474Q [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602098] CYP27A1 R474W [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5602178] CYP27A1 T339M [mitochondrial matrix] - Homo sapiens
inDisease	true
maxDepth	2
name	CYP27A1 mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5602102

(physicalEntity)	[CatalystActivity:9631794] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix] [CatalystActivity:9631899] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix]
(diseaseEntity)	[EntityFunctionalStatus:5602127] loss_of_function of CYP27A1 mutants [mitochondrial matrix]