Preferred Label : PRKDC wt Allele;
NCIt synonyms : p350; DNPK1; Protein Kinase, DNA-Activated, Catalytic Polypeptide wt Allele; Hyperradiosensitivity Complementing 1, Mouse, Homolog of Gene; Hyper-Radiosensitivity of Murine SCID Mutation, Complementing 1 Gene; XRCC7; DNA-PKcs; HYRC; HYRC1; IMD26; DNAPK;
NCIt definition : Human PRKDC wild-type allele is located in the vicinity of 8q11 and is approximately
187 kb in length. This allele, which encodes PMS1 protein homolog 2 protein, may play
a role in DNA double strand break repair and several other processes.;
NCIt note : PRKDC relies on the heterodimer Ku70/Ku80 autoantigen, the DNA-binding DNA-PK component,
to direct it to DNA double-stranded breaks for other discontinuities in the DNA double
helix and trigger its kinase activity. PRKDC is critical for repair of DNA double
strand breaks via the nonhomologous DNA end joining, telomere maintenance via telomere
capping, innate immune response via V(D)J recombination (where V is variable, D is
diversity, and J is joining) as well as transcriptional regulation via p53, the site-specific
recombination process in developing B and T lymphocytes to generate the variable regions
of immunoglobulin and T cell receptor genes.;
GenBank Accession Number : NM_006904;
Origin ID : C51004;
UMLS CUI : C1705560;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
