Reactome | PMS2 variants-defective DNA mismatch repair

Schema > FailedReaction > Entries

authored	[InstanceEdit:5545480] Gillespie, Marc E, 2014-05-21
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:5632971] Gillespie, Marc E, 2014-10-29
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5632958
disease	[Disease:4791250] colorectal cancer
displayName	PMS2 variants-defective DNA mismatch repair
edited	[InstanceEdit:8980657] Gillespie, Marc E, 2017-02-28
entityFunctionalStatus	[EntityFunctionalStatus:5632956] loss_of_function of PMS2 Variants [nucleoplasm]
eventOf	[Pathway:R-HSA-5632987] Defective Mismatch Repair Associated With PMS2 - Homo sapiens
input	[EntityWithAccessionedSequence:R-HSA-912495] MLH1 [nucleoplasm] [DefinedSet:R-HSA-5632957] PMS2 Variants [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5575582] BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures [LiteratureReference:5444524] Mutation of a mutL homolog in hereditary colon cancer
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	PMS2 variants-defective DNA mismatch repair
normalReaction	[Reaction:R-HSA-5444523] Formation of MSH1:PMS2 Complex
releaseDate	2017-03-27
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8944056] Arora, Sanjeevani, 2016-11-01
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5632958
summation	[Summation:5659938] PMS2 heterodimerizes with MLH1 to form the MutL alpha comple...

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