MUTYH

MutY homolog (E. coli)
PDB rendering based on 1x51.
Available structures: 1x51
Identifiers
Symbol(s)	MUTYH; MGC4416; MYH
External IDs	OMIM: 604933 MGI: 1917853 Homologene: 8156
Gene Ontology Molecular Function: • DNA binding • endonuclease activity • iron ion binding • protein binding • hydrolase activity • hydrolase activity, acting on glycosyl bonds • DNA N-glycosylase activity • MutLalpha complex binding • MutLbeta complex binding • MutSalpha complex binding • MutSbeta complex binding • metal ion binding • 4 iron, 4 sulfur cluster binding Cellular Component: • intracellular • nucleus Biological Process: • base-excision repair • mismatch repair • cell cycle • metabolic process • negative regulation of progression through cell cycle
RNA expression pattern
Additional recommended knowledge Guide to balance cleaning: 8 simple steps What is the Correct Way to Check Repeatability in Balances? Essential Laboratory Skills Guide More reference expression data
Orthologs
	Human	Mouse
Entrez	4595	70603
Ensembl	ENSG00000132781	ENSMUSG00000028687
Uniprot	Q9UIF7	Q762C9
Refseq	NM_001048171 (mRNA) NP_001041636 (protein)	NM_133250 (mRNA) NP_573513 (protein)
Location	Chr 1: 45.57 - 45.58 Mb	Chr 4: 116.31 - 116.32 Mb
Pubmed search	[1]	[2]

MUTYH (mutY Homolog (E. coli)) is a human gene ^[1] that carries the instructions for cells to make an enzyme that is involved in the repair of DNA. This enzyme, MUTYH glycosylase, corrects particular mistakes that are made when DNA is copied (replicated) in preparation for cell division. The building blocks of DNA (base pairs) have specific partners. Normally, adenine pairs with thymine (written as A-T) and guanine pairs with cytosine (G-C). During the normal cellular activities, guanine sometimes becomes altered by oxygen, which causes it to pair with adenine instead of cytosine. MYH glycosylase fixes these mistakes so mutations don't accumulate in the DNA and lead to tumor formation and possibly cancer. This type of repair is known as base excision repair (BER).

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). Mutations in this gene affect the ability of cells to correct mistakes made during DNA replication. Both copies of the MUTYH 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 165 (also written as Tyr165Cys or Y165C). The other common mutation switches the amino acid glycine with aspartic acid at position 382 (also written as Gly382Asp or G382D).

References

Further reading