Gene: PRKDC

Alternate names for this Gene: DNA-PKC|DNA-PKcs|DNAPK|DNAPKc|DNPK1|HYRC|HYRC1|IMD26|XRCC7|p350

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q11.21

Description of this Gene: protein kinase, DNA-activated, catalytic subunit

Type of Gene: protein-coding

rs587777685 in PRKDC gene and IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES PMID 19075392 2009 A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

PMID 23722905 2013 PRKDC mutations in a SCID patient with profound neurological abnormalities.

rs10504062 in PRKDC gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10504062 in PRKDC gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7003908 in PRKDC gene and Sleep Initiation and Maintenance Disorders PMID 29520036 2018 Genome-wide analysis of insomnia disorder.

rs10504062 in PRKDC gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.