MUTYH

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith colorectal cancer
MUTYH-associated polyposis
gptkbp:discoveredBy gptkb:Takahashi_et_al.
gptkbp:encodes MutY DNA glycosylase
gptkbp:Entrez_Gene_ID 4595
gptkbp:expressedIn various tissues
gptkbp:firstDescribed 1996
gptkbp:function base excision repair
gptkbp:HGNC_ID 7529
https://www.w3.org/2000/01/rdf-schema#label MUTYH
gptkbp:locatedOnChromosome chromosome 1
1p34.1
gptkbp:mutationAssociatedWith autosomal recessive inheritance
increased risk of colorectal cancer
gptkbp:OMIM 604933
gptkbp:orthologIn E. coli mutY
gptkbp:product MutY homolog protein
gptkbp:proteinFamily DNA glycosylase family
gptkbp:UniProtID Q9UIF7
gptkbp:bfsParent gptkb:DNA_glycosylases
gptkbp:bfsLayer 7