Reactome | Defective Base Excision Repair Associated with MUTYH

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Defective Base Excision Repair Associated with MUTYH Show undefined attributes

authored	[InstanceEdit:9608305] Orlic-Milacic, Marija, 2018-05-11
created	[InstanceEdit:9605307] Orlic-Milacic, Marija, 2018-04-09
crossReference	[DatabaseIdentifier:9606207] OMIM:608456
dbId	9605310
disease	[Disease:1500689] cancer [Disease:4791250] colorectal cancer [Disease:9605309] familial adenomatous polyposis
displayName	Defective Base Excision Repair Associated with MUTYH
doi	10.3180/R-HSA-9605310.1
edited	[InstanceEdit:9612698] Orlic-Milacic, Marija, 2018-06-29
eventOf	[Pathway:R-HSA-9605308] Diseases of Base Excision Repair - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[Pathway:R-HSA-9608287] Defective MUTYH substrate binding - Homo sapiens [Pathway:R-HSA-9608290] Defective MUTYH substrate processing - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9605478] Colorectal cancer and inherited mutations in base-excision repair [LiteratureReference:9605488] Role of MUTYH in human cancer [LiteratureReference:9606191] MUTYH gene expression and alternative splicing in controls and polyposis patients [LiteratureReference:9606203] MUTYH-associated polyposis (MAP) [LiteratureReference:9606232] A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts [LiteratureReference:9606613] Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles [LiteratureReference:9606610] Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition [LiteratureReference:9606648] Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer [LiteratureReference:9606651] Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis [LiteratureReference:9606652] Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase [LiteratureReference:5635925] Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria [LiteratureReference:9606738] MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors [LiteratureReference:9606750] Understanding the role of the Q338H MUTYH variant in oxidative damage repair [LiteratureReference:9606752] MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-terminal domain [LiteratureReference:9606759] Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer [LiteratureReference:9606834] A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective Base Excision Repair Associated with MUTYH
releaseDate	2018-09-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9612701] Nakabeppu, Yusaku, 2018-06-28
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9605310
summation	[Summation:9605476] MUTYH gene is located on chromosome 1 and encodes a DNA glyc...

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[Pathway:R-HSA-9605308] Diseases of Base Excision Repair

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