Preferred Label : OGG1 wt Allele;
NCIt synonyms : HOGG1; MUTM; 8-Oxoguanine DNA Glycosylase wt Allele; HMMH; N-Glycosylase/DNA Lyase Gene; OGH1; MMH;
NCIt definition : Human OGG1 wild-type allele is located in the vicinity of 3p26.2 and is approximately
18 kb in length. This allele, which encodes N-glycosylase/DNA lyase protein, plays
a role in base excision repair. Defects in the OGG1 gene are associated with tumor
formation.;
NCIt note : The OGG1 gene (OGG1 family 1) encodes an enzyme in base excision repair. OGG1 incises
DNA at 8-oxoguanine residues and excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-n-methylformamidopyrimidine
(FAPY) from damaged DNA. OGG1 also has activities of beta-lyase that nicks DNA 3-prime
to the lesion and endonuclease that cleaves DNA near apurinic or apyrimidinic sites
to products with 5-prime-phosphate. Alternative splicing of the C-terminal region
of this gene classifies splice variants into two major groups, type 1 and type 2,
depending on the last exon of the sequence. Type 1 variants end with exon 7 and type
2 end with exon 8. All variants share the N-terminal region in common (1a/alpha, 1b,
1c, 2a/beta, 2b, 2c, 2d and 2e) and 1a is the prevalent form. OGG1 is ubiquitous and
located in nucleus (isoform 1a) and mitochondria (isoform 2a).;
GenBank Accession Number : NM_016819;
Origin ID : C51000;
UMLS CUI : C1709289;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
