Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:MLH1
|
| gptkbp:associatedWith |
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer |
| gptkbp:conservedIn |
mammals
eukaryotes |
| gptkbp:discoveredBy |
gptkb:Richard_Kolodner
|
| gptkbp:encodes |
gptkb:DNA_mismatch_repair_protein_MLH1
|
| gptkbp:Entrez_Gene_ID |
4292
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:function |
DNA mismatch repair
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
7127
|
| https://www.w3.org/2000/01/rdf-schema#label |
mutL homolog 1
|
| gptkbp:interactsWith |
gptkb:MSH2
gptkb:PMS2 gptkb:PCNA gptkb:EXO1 |
| gptkbp:involvedIn |
genome stability
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p22.2 |
| gptkbp:mutationAssociatedWith |
germline
increased cancer risk somatic microsatellite instability |
| gptkbp:OMIM |
120436
|
| gptkbp:orthologIn |
E. coli mutL
|
| gptkbp:product |
MutL protein homolog 1
|
| gptkbp:regulates |
DNA repair pathway
|
| gptkbp:UniProtID |
P40692
|
| gptkbp:usedIn |
genetic testing for cancer risk
|
| gptkbp:bfsParent |
gptkb:MLH1
|
| gptkbp:bfsLayer |
6
|