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Protein Coding Gene : Prkdc protein kinase, DNA activated, catalytic polypeptide

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]
  • synonyms:
  • MGI:2146554,
  • Prkdc,
  • expressed sequence AI326420,
  • MGD-MRK-28071,
  • AI326420,
  • DNA-PKcs,
  • AU019811,
  • DOXNPH,
  • dxnph,
  • scid,
  • severe combined immunodeficiency,
  • XRCC7,
  • DNAPDcs,
  • slip,
  • DNA-PK,
  • MGD-MRK-14312,
  • MGI:2146417,
  • expressed sequence AU019811,
  • protein kinase, DNA activated, catalytic polypeptide,
  • MGI:3574416,
  • doxorubicin nephropathy

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