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Reviewed April 2008

What is the official name of the MUTYH gene?

The official name of this gene is “mutY DNA glycosylase.”

MUTYH is the gene's official symbol. The MUTYH gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MUTYH gene?

The MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which is involved in the repair of DNA. This enzyme corrects particular mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. DNA is made up of building blocks called nucleotides, each of which has a specific partner. Normally, adenine pairs with thymine (written as A-T) and guanine pairs with cytosine (written as G-C). During normal cellular activities, guanine sometimes becomes altered by oxygen, which causes it to pair with adenine instead of cytosine. MYH glycosylase fixes this mistake so mutations do not accumulate in the DNA and lead to tumor formation. This type of repair is known as base excision repair.

How are changes in the MUTYH gene related to health conditions?

familial adenomatous polyposis - caused by mutations in the MUTYH gene

Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene affect the ability of cells to correct mistakes made during DNA replication. In individuals who have autosomal recessive familial adenomatous polyposis, both copies of the MUTYH gene in each cell are mutated. Most mutations in this gene result in the production of a nonfunctional or low-functioning MYH glycosylase. When base excision repair in the cell is impaired, mutations in other genes build up, leading to cell overgrowth and possibly tumor formation. Two mutations that change the sequence of the building blocks of proteins (amino acids) in MYH glycosylase are common in people of European descent. One mutation replaces the amino acid tyrosine with the amino acid cysteine at position 165 (written as Tyr165Cys or Y165C). The other mutation switches the amino acid glycine with the amino acid aspartic acid at position 382 (written as Gly382Asp or G382D).

Where is the MUTYH gene located?

Cytogenetic Location: 1p34.1

Molecular Location on chromosome 1: base pairs 45,329,242 to 45,340,470

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The MUTYH gene is located on the short (p) arm of chromosome 1 at position 34.1.

The MUTYH gene is located on the short (p) arm of chromosome 1 at position 34.1.

More precisely, the MUTYH gene is located from base pair 45,329,242 to base pair 45,340,470 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MUTYH?

You and your healthcare professional may find the following resources about MUTYH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MUTYH gene or gene products?

  • hMYH
  • mutY (E. coli) homolog
  • mutY homolog
  • mutY homolog (E. coli)
  • MYH

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MUTYH?

acids ; adenine ; amino acid ; aspartic acid ; autosomal ; autosomal recessive ; base excision repair ; cancer ; cell ; cell division ; colorectal ; cysteine ; cytosine ; DNA ; DNA replication ; E. coli ; enzyme ; familial ; gene ; glycine ; guanine ; mutation ; oxygen ; polyposis ; recessive ; thymine ; tumor ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (17 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: April 2008
Published: February 8, 2016