POLB wt Allele

Preferred Label : POLB wt Allele;

NCIt synonyms : Polymerase (DNA Directed), Beta wt Allele;

NCIt definition : Human POLB wild-type allele is located in the vicinity of 8p11.2 and is approximately 33 kb in length. This allele, which encodes DNA polymerase beta protein, plays a role in DNA base excision repair which entails gap-filling DNA synthesis in a stepwise, distributive fashion. Defects in the POLB gene are associated with certain forms of cancer such as cervical and esophageal cancer.;

NCIt note : An allelic variant of the POLB gene, characterized by deletion of exon 11, has been shown to be ubiquitously expressed. The DNA polymerase beta protein encoded by this variant inhibits the gap filling and DNA binding activities of the wild-type protein.;

GenBank Accession Number : NM_002690;

Details

Origin ID

C51340;

UMLS CUI

C1709415;

OMIM relation
- Polymerase, dna, beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p11.2 [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Base Excision Repair [NCIt concept]
- DNA Maintenance [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Replication [NCIt concept]
- DNA Synthesis [NCIt concept]
- Drug Resistance Process [NCIt concept]
- Polymerization [NCIt concept]

Keyword's position in hierarchy(ies) :

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