MUTYH
Sign in to saveAlso known as MYH, mutY DNA glycosylase, mutY homolog (E. coli)
MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway. 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 common form of oxidative DNA damage.
Gene data
MUTYH- Name
- mutY DNA glycosylase
- Type
- protein-coding
- Position
- 45,329,163–45,340,893 (−)
- Aliases
- MYH
- Ensembl
- ENSG00000132781
- RefSeq RNA
- NM_001048171.2, NM_001048172.2, NM_001048173.2, NM_001048174.2, NM_001128425.2
- RefSeq protein
- NP_001041636.2, NP_001041637.1, NP_001041638.1, NP_001041639.1, NP_001121897.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
mutY DNA glycosylase
- Symbol
- MUTYH
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:45,329,163-45,340,893
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein MUTYH PDB 1x51.png
Show 9 more facts
- HomoloGene ID
- 8156
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4595
- chromosome
- human chromosome 1
- genomic start
- 45794835
- genomic end
- 45340893
- cytogenetic location
- 1p34.1
- genetic association
- ovarian cancer
- expressed in
- pituitary gland
Sources (7)
via Wikidata · CC0
~9 min read
Encyclopedic overview
10 sectionsContents
- Location and structure
- Mechanism
- Expression
- Protein interactions
- Chemical interactions
- Related conditions
- See also
- References
- Further reading
- External links
MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway. 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 common form of oxidative DNA damage.
The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
Excerpted from Wikipedia’s “MUTYH” article, available under the CC BY-SA 4.0 licence.