PRKDC protein kinase, DNA-activated, catalytic subunit

Gene ID: 5591, updated on 11-Apr-2024
Gene type: protein coding
Also known as: HYRC; p350; DNAPK; DNPK1; HYRC1; IMD26; XRCC7; DNAPKc; DNA-PKC; DNA-PKcs

Summary

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Severe combined immunodeficiency due to DNA-PKcs deficiency MedGen: C4014833OMIM: 615966GeneReviews: Not available	See labs

Genomic context

Location:: 8q11.21

Sequence:: Chromosome: 8; NC_000008.11 (47773111..47960136, complement)

Total number of exons:: 86

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRKDC variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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