MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a common form of oxidative DNA damage.
The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000132781 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028687 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part...
chromosome 5 while autosomal recessive FAP (or MUTYH-associated polyposis) is caused by defects in the MUTYH gene on chromosome 1. Of the three, FAP itself...
cancer syndromes are ataxia–telangiectasia, Bloom syndrome, Fanconi anemia, MUTYH-associated polyposis, Rothmund–Thomson syndrome, Werner syndrome and Xeroderma...
associated with base excision repair (BER) deficiency and linked to defective MUTYH, a DNA glycosylase, in colorectal cancer. Direct DNA oxidation damage leads...
H. T.; Lanspa, S. J. (2010). "Colorectal Cancer Survival Advantage in MUTYH-Associated Polyposis and Lynch Syndrome Families". JNCI Journal of the National...
MYH can refer to: An alternative name for MUTYH, a gene that causes colon polyps when mutated. Muslim Youth Helpline, a charity helpline that provides...
HT, Lanspa SJ (November 2010). "Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families". Journal of the National...
instability. Additional implicated genes include: SMAD4, BMPR1A, PTEN, GREM1, and MUTYH. The only validated genetic cause of SPS is RNF43. However, most individuals...
studies the proteins MUTYH and NEIL1, which help to catalyze the repair of damaged DNA as part of the base excision repair pathway. MUTYH is a glycosylase...
This allows WRN to promote long-patch DNA repair synthesis by Polλ during MUTYH-initiated repair of 8-oxo-G:A mispairs. WRN is also involved in replication...
Hübscher U, Janscak P (2012). "Involvement of Werner syndrome protein in MUTYH-mediated repair of oxidative DNA damage". Nucleic Acids Res. 40 (17): 8449–59...
Buisine MP (2006). "Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis". Hum. Mutat. 27 (10): 1064...
Kuśnierczyk A, et al. (December 2015). "Synergistic Actions of Ogg1 and Mutyh DNA Glycosylases Modulate Anxiety-like Behavior in Mice" (PDF). Cell Reports...
Hirahashi M, Kumagae Y, Nakamura M, Oki E, Oda Y (June 2016). "Reduced MUTYH, MTH1, and OGG1 expression and TP53 mutation in diffuse-type adenocarcinoma...
about 50 target genes to increase expression, including DNA repair genes MUTYH, BARD1, ERCC1 and XPA. Increased ETS1 expression causes resistance to cell...
gene; all encode the same protein. APEX1 has been shown to interact with MUTYH, Flap structure-specific endonuclease 1 and XRCC1. Deficiency of APEX1 causes...
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