Reactome | CYP11A1 I279Yfs*10 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:5580263] Jassal, Bijay, 2014-06-09
crossReference	[DatabaseIdentifier:12020858] Mondo:0013400 [DatabaseIdentifier:9831778] ClinGen:CA7656448
dbId	5580251
disease	[Disease:5580265] congenital adrenal insufficiency
displayName	CYP11A1 I279Yfs*10 [mitochondrial matrix]
endCoordinate	287
hasModifiedResidue	[FragmentReplacedModification:5580250] Replacement of residues 279 to 287 by YTPRTSTGN
inDisease	true
literatureReference	[LiteratureReference:5580257] Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
maxDepth	1
memberOf	[DefinedSet:R-HSA-5580242] CYP11A1 mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9831780] Orlic-Milacic, Marija, 2023-03-24
name	CYP11A1 I279Yfs*10 Cytochrome P450 11A1
referenceEntity	[ReferenceGeneProduct:uniprot:P05108] UniProt:P05108 CYP11A1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5580251
startCoordinate	40
updateTrackers	[UpdateTracker:9905226] Update Tracker - [EntityWithAccessionedSequence:5580251] CYP11A1 I279Yfs*10 [mitochondrial matrix] - v85:[addLiteratureReference, modifyName]

(updatedInstance)	[UpdateTracker:9905226] Update Tracker - [EntityWithAccessionedSequence:5580251] CYP11A1 I279Yfs*10 [mitochondrial matrix] - v85:[addLiteratureReference, modifyName]
(hasMember)	[DefinedSet:R-HSA-5580242] CYP11A1 mutants [mitochondrial matrix]

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