Reactome | CYP4F22 W521* [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5602279] Jassal, Bijay, 2014-06-23
crossReference	[DatabaseIdentifier:12020868] Mondo:0017265
dbId	5602291
disease	[Disease:5602266] autosomal recessive congenital ichthyosis
displayName	CYP4F22 W521* [endoplasmic reticulum membrane]
endCoordinate	531
hasModifiedResidue	[NonsenseMutation:5602277] Nonsense mutation at L-tryptophan 521
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5602265] CYP4F22 mutants [endoplasmic reticulum membrane] - Homo sapiens
name	CYP4F22 W521* Cytochrome P450 4F22 CP4FN_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q6NT55] UniProt:Q6NT55 CYP4F22
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5602291
startCoordinate	1

(hasMember)

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