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MUTYH (NM_001293192) - mutY DNA glycosylase

Adenine Dna Glycosylase Isoform 8

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of MUTYH protein. View all 11 isoforms
MUTYH: adenine DNA glycosylase isoform 8
Description:

This gene encodes a DNA 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. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017].

Strand
-
Chromosome
1
Protein
429 residues
All mutations
571
PTM sites
5
CDS
45,794,977 - 45,798,984
Transcription
45,794,913 - 45,806,142
9.56% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 4595
UniProt