DNA Mismatch Repair Protein Mlh1

Preferred Label : DNA Mismatch Repair Protein Mlh1;

NCIt synonyms : COCA2; MLH1 Gene Product; HNPCC2; HNPCC; MLH1 Protein; hMLH1 Protein; MGC5172; FCC2; Mismatch DNA Repair Protein MLH1; MUTL Protein Homolog 1; Mismatch Repair Protein MLH1; DNA Mismatch Repair Protein-MLH1;

NCIt related terms : MLH1;

NCIt definition : DNA mismatch repair protein Mlh1 (756 aa, 85 kDa) is encoded by the human MLH1 gene. This protein is involved in post-replicative DNA mismatch repair.;

NCIt note : MLH1 is part of the multi-subunit BASC repair complex containing ATM, BLM, MSH2, MSH6, BRCA1, the RAD50/MRE11/NBS1 complex, and the RFC1/RFC2/RFC4 complex. MLH1 is homologous to MutL, which hydrolyzes ATP. (from OMIM 120436);

Details

Origin ID

C21464;

UMLS CUI

C0252642;

False automatic mappings
- Lynch syndrome [ORDO Disease]
OMIM relation
- Dna mismatch repair protein mlh1 [OMIM gene]
See also inter- (CISMeF)
- colorectal neoplasms, hereditary nonpolyposis [MeSH Descriptor]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- MLH1 protein, human [MeSH concept]
- MLH1 protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CPTAC Uterine Corpus Endometrial Carcinoma Baseline Form [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Repair Gene [NCIt concept]
- MLH1 Gene [NCIt concept]
gene_product_expressed_in_tissue
- Breast [NCIt concept]
- Colon [NCIt concept]
- Gallbladder [NCIt concept]
- Heart [NCIt concept]
- Lung [NCIt concept]
- Lymphocyte [NCIt concept]
- Prostate Gland [NCIt concept]
- Spleen [NCIt concept]
- Testis [NCIt concept]
- Thyroid Gland [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- DNA Binding Protein [NCIt concept]
- Mismatch Repair Protein [NCIt concept]
gene_product_has_gene_product_variant
- MLH1 Protein Variant [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_is_element_in_pathway
- Colorectal Cancer Pathway [NCIt concept]
- Endometrial Cancer Pathway [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Lynch Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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