Reactome | CYP24A1 E143del [mitochondrial inner membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70616] mitochondrial inner membrane
created	[InstanceEdit:5602016] Jassal, Bijay, 2014-06-16
crossReference	[DatabaseIdentifier:12020806] Mondo:0001566
dbId	5601991
disease	[Disease:5602006] hypercalcemia
displayName	CYP24A1 E143del [mitochondrial inner membrane]
endCoordinate	514
hasModifiedResidue	[FragmentDeletionModification:5602022] Deletion of residues 143 to 143
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5602010] CYP24A1 mutants [mitochondrial inner membrane] - Homo sapiens
modified	[InstanceEdit:9964145] D'Eustachio, Peter, 2025-08-19
name	CYP24A1 E143del Cytochrome P450 24A1 CP24_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q07973] UniProt:Q07973 CYP24A1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5601991
startCoordinate	36
updateTrackers	[UpdateTracker:9965144] Update Tracker - [EntityWithAccessionedSequence:5601991] CYP24A1 E143del [mitochondrial inner membrane] - v94:[modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9965144] Update Tracker - [EntityWithAccessionedSequence:5601991] CYP24A1 E143del [mitochondrial inner membrane] - v94:[modifyEndCoordinate]
(hasMember)	[DefinedSet:R-HSA-5602010] CYP24A1 mutants [mitochondrial inner membrane]

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