Adenine DNA Glycosylase

Preferred Label : Adenine DNA Glycosylase;

NCIt synonyms : MutY Homolog; MUTYH Protein; MutY-Like Protein; hMYH; MUTYH; AG-Specific Adenine DNA Glycosylase; EC 3.2.2.31; A/G-Specific Adenine DNA Glycosylase;

NCIt definition : Adenine DNA glycosylase protein (546 aa, 60 kDa) is encoded by the MUTYH gene. This nuclear enzyme plays a role in mismatch repair via the removal of mutagenic adenine/8-oxo-guanine.;

Details

Origin ID

C61059;

UMLS CUI

C1259661;

OMIM relation
- Muty dna glycosylase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- MUTYH protein, human [MeSH concept]
concept_is_in_subset
- 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]
- MUTYH Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_gene_product_variant
- MUTYH NP_001280119.1:p.Q338H [NCIt concept]
- MUTYH Protein Variant [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Colorectal Carcinoma [NCIt concept]
gene_product_plays_role_in_biological_process
- Base Excision Repair [NCIt concept]
- Cell Maintenance [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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