MUTYH wt Allele

Preferred Label : MUTYH wt Allele;

NCIt synonyms : MutY DNA Glycosylase wt Allele; hMYH; MYHbeta; MYH; MutY, E. coli, Homolog of Gene; CYP2C; MutY (E. Coli) Homolog Gene; MutY Homolog (E. coli) Gene; RP4-534D1.2; MutY Homolog Gene;

NCIt definition : Human MUTYH allele is located within 1p34.3-p32.1 and is approximately 92 kb in length. This allele, which encodes adenine DNA glycosylase protein, is involved in repair of the mutagenic adenosine/8-oxo-guanine mismatched base pair in DNA. Certain allelic variants of the MUTYH gene are associated with colorectal cancer.;

GenBank Accession Number : NM_012222;

Details

Origin ID

C61057;

UMLS CUI

C1881502;

OMIM relation
- Muty dna glycosylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.3-p32.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- MUTYH-Associated Polyposis [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Maintenance [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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