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- NCIT_C50991 IAO_0000115 "Human MLH1 wild-type allele is located in the vicinity of 3p21.3 and is approximately 57 kb in length. This allele, which encodes DNA mismatch repair protein Mlh1, plays a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial and stomach cancers. Further, the defects in MLH1 are a cause of hereditary non-polyposis colorectal cancer." @default.
- NCIT_C50991 NCIT_NHC0 "C50991" @default.
- NCIT_C50991 NCIT_P100 "120436" @default.
- NCIT_C50991 NCIT_P101 "MUTL/HEXB Family, mutL (Bacterial)" @default.
- NCIT_C50991 NCIT_P102 "U07343" @default.
- NCIT_C50991 NCIT_P106 "Gene or Genome" @default.
- NCIT_C50991 NCIT_P107 "MLH1 wt Allele" @default.
- NCIT_C50991 NCIT_P108 "MLH1 wt Allele" @default.
- NCIT_C50991 NCIT_P207 "C1704807" @default.
- NCIT_C50991 NCIT_P211 "mismatch repair" @default.
- NCIT_C50991 NCIT_P321 "4292" @default.
- NCIT_C50991 NCIT_P322 "CTRP" @default.
- NCIT_C50991 NCIT_P366 "MLH1_wt_Allele" @default.
- NCIT_C50991 NCIT_P96 "DNA Mismatch Repair Protein MLH1" @default.
- NCIT_C50991 NCIT_P98 "The MLH1 gene (MUTL/HEXB family) consists of nineteen coding exons with exons 1 to 7 contain a highly conserved region. Widely expressed, several alternative splice variants occur in diverse tissue types. Some variants lack exons 6/9, 9, 9/10, 9/10/11, 10/11, 12, 16, or 17. The encoded protein, MutL Homolog 1 (MLH1), is part of the multi-subunit BASC complex, which may sense abnormal DNA structures and regulate post-replication repair. MLH1 and MLH3 also heterodimerize." @default.
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- NCIT_C50991 hasExactSynonym "MGC5172" @default.
- NCIT_C50991 hasExactSynonym "MLH1 wt Allele" @default.
- NCIT_C50991 hasExactSynonym "MutL (E. Coli) Homolog 1 (Colon Cancer, Nonpolyposis Type 2) Gene" @default.
- NCIT_C50991 hasExactSynonym "MutL Homolog 1 wt Allele" @default.
- NCIT_C50991 hasExactSynonym "MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 (E. coli) Gene" @default.
- NCIT_C50991 hasExactSynonym "MutL, E. coli, Homolog of, 1 Gene" @default.
- NCIT_C50991 hasExactSynonym "hMLH1" @default.
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