Reactome | ABCC8 mutants (PNDM, TNDM2) [plasma membrane]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:5683244] ATP-activated inward rectifier potassium channel activity of ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5683228] Jassal, Bijay, 2015-03-12
dbId	5683210
disease	[Disease:5683190] neonatal diabetes mellitus
displayName	ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-5683247] ABCC8 P132L [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683251] ABCC8 A1185E [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683256] ABCC8 E382K [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683253] ABCC8 L213R [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683257] ABCC8 N72S [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683311] ABCC8 L582V [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5683307] ABCC8 R1379C [plasma membrane] - Homo sapiens
inDisease	true
modified	[InstanceEdit:5683309] Jassal, Bijay, 2015-03-13
name	ABCC8 mutants (PNDM, TNDM2)
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5683210

(diseaseEntity)	[EntityFunctionalStatus:5683224] gain_of_function of ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
(physicalEntity)	[CatalystActivity:5683244] ATP-activated inward rectifier potassium channel activity of ABCC8 mutants (PNDM, TNDM2) [plasma membrane]