Preferred Label : DNA Mismatch Repair Protein Msh6;
NCIt synonyms : GTMBP; GTBP; G/T Mismatch-Binding Protein; G/T Mismatch Binding Protein; MutS Homolog 6; MutS-Alpha 160 kDa Subunit; Sperm-Associated Protein; DNA Mismatch Repair Protein-MSH6; hMSH6; p160;
NCIt related terms : MSH6;
NCIt definition : DNA mismatch repair protein Msh6 (1360 aa, 153 kDa) is encoded by the human MSH6
gene. This protein is involved in the DNA damage response.;
NCIt note : The G/T Binding Protein (GTBP), encoded by the MSH6 gene, forms Mismatch-Binding Factor
with MSH2. GTBP contains a PWWP domain, binds to G/T mismatches, is required for base/base
and single-nucleotide insertion-deletion repairs, and increases the proficiency of
two-four nucleotide insertion-deletion repair. ADP-bound MSH2/MSH6 binds to mismatched
DNA, provoking ADP/ATP exchange and MSH2/MSH6 migration along the DNA backbone. DNA-bound,
ATP-bound MSH2/MSH6 activates the repair machinery. MSH6 is part of the multisubunit
BASC complex, which may sense abnormal DNA structures and regulate postreplication
repair. (From SWISS-PROT, OMIM);
Origin ID : C21468;
UMLS CUI : C1563392;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_gene_product_variant
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
