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- NCIT_C50992 IAO_0000115 "Human MLH3 wild-type allele is located in the vicinity of 14q24.3 and is approximately 35 kb in length. This allele, which encodes DNA mismatch repair protein Mlh3, plays a role in DNA mismatch repair and genomic integrity maintenance." @default.
- NCIT_C50992 NCIT_NHC0 "C50992" @default.
- NCIT_C50992 NCIT_P100 "604395" @default.
- NCIT_C50992 NCIT_P102 "AB039667" @default.
- NCIT_C50992 NCIT_P106 "Gene or Genome" @default.
- NCIT_C50992 NCIT_P107 "MLH3 wt Allele" @default.
- NCIT_C50992 NCIT_P108 "MLH3 wt Allele" @default.
- NCIT_C50992 NCIT_P207 "C1705267" @default.
- NCIT_C50992 NCIT_P211 "biological_process unknown" @default.
- NCIT_C50992 NCIT_P211 "cellular_component unknown" @default.
- NCIT_C50992 NCIT_P211 "mismatch repair" @default.
- NCIT_C50992 NCIT_P211 "molecular_function unknown" @default.
- NCIT_C50992 NCIT_P211 "nucleus" @default.
- NCIT_C50992 NCIT_P211 "satellite DNA binding" @default.
- NCIT_C50992 NCIT_P321 "27030" @default.
- NCIT_C50992 NCIT_P322 "CTRP" @default.
- NCIT_C50992 NCIT_P366 "MLH3_wt_Allele" @default.
- NCIT_C50992 NCIT_P96 "DNA Mismatch Repair Protein MLH3" @default.
- NCIT_C50992 NCIT_P98 "The MLH3 gene is ubiquitously expressed in various tissues and two isoforms are produced by alternative splicing. MLH3 interacts with MLH1 and shares the same interacting region on MLH1 with PMS1 and PMS2. The balance of these three competing MLH1 partners may be important in the repair of mismatches in DNA. Malfunction of the mismatch repair system results in a mutator phenotype, which is manifested as microsatellite instability (MSI). MSI is often divided into 2 forms: MSI-high (MSI-H) and MSI-low (MSI-L), based quantitatively on the observed frequency of genomic mutations. An appreciable frequency of somatic MLH3 mutations in MSI-H tumors is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis. Germline mutations of this gene may also play a role in hereditary nonpolyposis colorectal cancer." @default.
- NCIT_C50992 NCIT_R130 NCIT_C20633 @default.
- NCIT_C50992 NCIT_R130 NCIT_C39705 @default.
- NCIT_C50992 NCIT_R130 NCIT_C91471 @default.
- NCIT_C50992 NCIT_R37 NCIT_C16513 @default.
- NCIT_C50992 NCIT_R37 NCIT_C17710 @default.
- NCIT_C50992 NCIT_R37 NCIT_C17828 @default.
- NCIT_C50992 NCIT_R37 NCIT_C18300 @default.
- NCIT_C50992 NCIT_R37 NCIT_C20639 @default.
- NCIT_C50992 NCIT_R37 NCIT_C28498 @default.
- NCIT_C50992 NCIT_R37 NCIT_C41543 @default.
- NCIT_C50992 NCIT_R38 NCIT_C120083 @default.
- NCIT_C50992 NCIT_R38 NCIT_C165470 @default.
- NCIT_C50992 NCIT_R38 NCIT_C28193 @default.
- NCIT_C50992 NCIT_R38 NCIT_C2991 @default.
- NCIT_C50992 NCIT_R38 NCIT_C3101 @default.
- NCIT_C50992 NCIT_R38 NCIT_C3266 @default.
- NCIT_C50992 NCIT_R38 NCIT_C54705 @default.
- NCIT_C50992 NCIT_R38 NCIT_C7057 @default.
- NCIT_C50992 NCIT_R38 NCIT_C7757 @default.
- NCIT_C50992 NCIT_R38 NCIT_C8494 @default.
- NCIT_C50992 NCIT_R40 NCIT_C12219 @default.
- NCIT_C50992 NCIT_R40 NCIT_C13282 @default.
- NCIT_C50992 NCIT_R40 NCIT_C13377 @default.
- NCIT_C50992 NCIT_R40 NCIT_C13432 @default.
- NCIT_C50992 NCIT_R40 NCIT_C13446 @default.
- NCIT_C50992 NCIT_R40 NCIT_C13519 @default.
- NCIT_C50992 NCIT_R40 NCIT_C14135 @default.
- NCIT_C50992 NCIT_R40 NCIT_C32221 @default.
- NCIT_C50992 NCIT_R40 NCIT_C34070 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14182 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14225 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14234 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14250 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14262 @default.
- NCIT_C50992 NCIT_R41 NCIT_C14282 @default.
- NCIT_C50992 NCIT_R41 NCIT_C25796 @default.
- NCIT_C50992 NCIT_R41 NCIT_C79740 @default.
- NCIT_C50992 normalizedInformationContent "100" @default.
- NCIT_C50992 referenceCount "1" @default.
- NCIT_C50992 hasExactSynonym "HNPCC7" @default.
- NCIT_C50992 hasExactSynonym "MLH3 wt Allele" @default.
- NCIT_C50992 hasExactSynonym "MutL (E. Coli) Homolog 3 Gene" @default.
- NCIT_C50992 hasExactSynonym "MutL Homolog 3 (E. coli) Gene" @default.
- NCIT_C50992 hasExactSynonym "MutL Homolog 3 wt Allele" @default.
- NCIT_C50992 hasExactSynonym "MutL, E. coli, Homolog of, 3 Gene" @default.
- NCIT_C50992 hasExactSynonym "S240II117 Gene" @default.
- NCIT_C50992 hasExactSynonym "hMLH3 Gene" @default.
- NCIT_C50992 inSubset NCIT_C116977 @default.
- NCIT_C50992 inSubset NCIT_C142799 @default.
- NCIT_C50992 inSubset NCIT_C142800 @default.
- NCIT_C50992 type Class @default.
- NCIT_C50992 isDefinedBy ncit.owl @default.
- NCIT_C50992 label "MLH3 wt Allele" @default.
- NCIT_C50992 subClassOf NCIT_C16612 @default.
- NCIT_C50992 subClassOf NCIT_C19676 @default.
- NCIT_C50992 subClassOf NCIT_C20210 @default.
- NCIT_C50992 subClassOf NCIT_C50992 @default.
- NCIT_C50992 equivalentClass B459224a22166e6934fea885dbd2e64f1 @default.
- NCIT_C50992 equivalentClass Beb85a30dd8d0f424baa7c6325e0e69eb @default.