Reactome | ABCA12 D2363N [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5682331] Jassal, Bijay, 2015-03-06
crossReference	[DatabaseIdentifier:12020868] Mondo:0017265
dbId	5682291
disease	[Disease:5602266] autosomal recessive congenital ichthyosis
displayName	ABCA12 D2363N [plasma membrane]
endCoordinate	2595
hasModifiedResidue	[ReplacedResidue:5682349] L-aspartic acid 2363 replaced with L-asparagine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5682322] ABCA12 mutants [plasma membrane] - Homo sapiens
name	ABCA12 D2363N ATP-binding cassette sub-family A member 12 ABCAC_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q86UK0] UniProt:Q86UK0 ABCA12
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5682291
startCoordinate	1

(hasMember)

Cite Us!