mutL homolog 1

URI: https://gptkb.org/entity/mutL_homolog_1
GPTKB entity
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
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 gptkb:DNA_repair_pathway
gptkbp:UniProtID P40692
gptkbp:usedIn genetic testing for cancer risk
gptkbp:bfsParent gptkb:MLH1
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label mutL homolog 1