Primary Identifier | MGI:104779 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 19090 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables DNA-dependent protein kinase activity; double-stranded DNA binding activity; and enzyme binding activity. Involved in several processes, including regulation of hematopoietic stem cell differentiation; regulation of hemopoiesis; and regulation of protein metabolic process. Acts upstream of or within several processes, including DNA metabolic process; ectopic germ cell programmed cell death; and hemopoiesis. Located in nucleus. Is expressed in several structures, including central nervous system; liver; neural retina; and thymus primordium. Used to study Duchenne muscular dystrophy; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive; and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in immunodeficiency 26. Orthologous to human PRKDC (protein kinase, DNA-activated, catalytic subunit). PHENOTYPE: Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer. [provided by MGI curators] |