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
|