MUTYH

MUTYH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X51, 3N5N
Identifiers
Aliases	MUTYH, mutY homolog, MYH, mutY DNA glycosylase
External IDs	OMIM: 604933 MGI: 1917853 HomoloGene: 8156 GeneCards: MUTYH
Gene ontology Molecular function • MutSalpha complex binding • metal ion binding • hydrolase activity, acting on glycosyl bonds • hydrolase activity • catalytic activity • iron-sulfur cluster binding • MutLalpha complex binding • 4 iron, 4 sulfur cluster binding • MutLbeta complex binding • MutSbeta complex binding • protein binding • DNA N-glycosylase activity • DNA binding Cellular component • nucleoplasm • mitochondrion • nucleus Biological process • DNA repair • metabolic process • depurination • cellular response to DNA damage stimulus • mismatch repair • base-excision repair Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4595	70603
Ensembl	ENSG00000132781	ENSMUSG00000028687
UniProt	Q9UIF7	Q99P21
RefSeq (mRNA)	NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_001293190 NM_001293191 NM_001293192 NM_001293195 NM_001293196 NM_012222	NM_001159581 NM_133250 NM_001316747
RefSeq (protein)	NP_001041636.1 NP_001041637.1 NP_001041638.1 NP_001041639.1 NP_001121897.1 NP_001280119.1 NP_001280120.1 NP_001280121.1 NP_001280124.1 NP_001280125.1 NP_036354.1 NP_001280121.1 NP_001280125.1	NP_001153053.1 NP_573513.2
Location (UCSC)	Chr 1: 45.33 – 45.34 Mb	Chr 4: 116.81 – 116.82 Mb
PubMed search	[1]	[2]
Wikidata

MUTYH (mutY DNA glycosylase, earlier mutY Homolog (E. coli)) is a human gene encoding a DNA glycosylase, MUTYH glycosylase, involved in oxidative DNA damage repair. 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 major oxidatively damaged DNA lesion. 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.^[3]

The MUTYH gene is located on the short (p) arm of chromosome 1 between positions 34.3 and 32.1, from base pair 45,464,007 to base pair 45,475,152.

Related conditions

Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis (also called MUTYH-associated polyposis). Polyps caused by mutated MUTYH do not appear until adulthood and are less numerous than those found in patients with APC gene mutations. The risk for developing colon cancer, when colon screening has not commenced, is about 43 to 100% (MUTYH-Associated Polyposis, genereviews 2012)

Mutations in this gene affect the ability of cells to correct mistakes made during DNA replication. Both copies of the MYH gene are mutated in individuals who have autosomal recessive familial adenomatous polyposis. Most reported mutations in this gene cause production of a nonfunctional or low functioning glycosylase enzyme. When base excision repair in the cell is compromised, mutations in other genes build up, leading to cell overgrowth and possibly tumor formation. The two most common mutations in Caucasian Europeans are exchanges of amino acids (the building blocks of proteins) in the enzyme. One mutation replaces the amino acid tyrosine with cysteine at position 179 (also written as p.Tyr179Cys (p.Y179C) or, when describing the nucleotide change, written as c.536A>G) The other common mutation switches the amino acid glycine with aspartic acid at position 396 (also written as p.Gly396Asp(G396D)or c.1187G>A)

Interactions

MUTYH has been shown to interact with Replication protein A1,^[4] PCNA^[4] and APEX1.^[4]

References

Further reading

External links

• Online Mendelian Inheritance in Man (OMIM) 604933
• EntrezGene 4595
• GeneCard
• Hereditary Colorectal Cancer Syndromes
• LOVD database