Variants
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MUTYH Gene

mutY DNA glycosylase

ALIAS SYMBOLS

  • MYH

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Description

The MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which is involved in the repair of DNA. This enzyme corrects particular errors 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 error so mutations do not accumulate in the DNA and lead to tumor formation. This type of repair is known as base excision repair.

CHROMOSOME

1


LOCATION

p34.1


LOCUS TYPE

gene with protein product

VARIANTS

1,292

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Phenotypes

External Links

  • HGNC

    HGNC:7527

  • NCBI

    4595

  • OMIM

    604933

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