Gene Symbol | PRKDC |
Entrez Gene ID | 5591 |
Full Name | protein kinase, DNA-activated, catalytic polypeptide |
Synonyms | DNA-PKcs,DNAPK,DNPK1,HYRC,HYRC1,IMD26,XRCC7,p350 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3) |