Medical Knowledge Cockpit colorectal adenomatous polyposis, autosomal recessive

MUTYH

• MUTYH-Associated Polyposis.
• MUTYH-associated polyposis (MAP)

 

MUTYH

Somatic tumors

Tumor types germline

colorectal

Cancer Syndrom

adenomatous polyposis coli

Translocation partner

Name

mutY homolog (E. coli)

Chromosome banding

1p34.3-1p32.1

Cancer molecular gen.

Rec

Mutation type

Mis

Other syndrome disease

 

MUTYH

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases fromthe DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus andmitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multipletranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair

The enzyme excises adenine bases fromthe DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus andmitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multipletranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)