Gene: [08q112/PRKDC] protein kinase, DNA-activated, catalytic polypeptide (p350); hyper-radiosensitivity of murine scid mutation, complementing 1 (HYRC1); X-ray repair complementing defective repair in Chinese hamster cells 7 (XRCC7); agammaglobulinemia, Swiss or alymphocytotic type (MIM:202500); severe combined immunodeficiency disease 1 (SCID1; MIM:202500); [HYRC1 SCID1 ]
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MOP |
DNA-dependent protein kinase - a nuclear protein serine/threonine kinase - consists of at least 2 components: the catalytic subunit PRKDC (p350) and the autoantigen Ku (p70; GEM:22q13/TAKU). Cells defective in either PRKDC or Ku are unable to perform V(D)J recombination that takes place in developing B and T lymphocytes to generate the variable regions of immunoglobulin (FAM:IMMG/00.0) and T cell receptor (FAM:TCR/00.0) genes." |
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REF |
LOC,MAP "Connelly MA &: Genomics, 47, N1, 71-83, 1998 CLO,SEQ,STR,EXP "Hartley KO &: Cell, 82, 849-856, 1995 LOC "Kirchgessner CU &: Science, 267, N5201, 1178-1183, 1995 LOC "Komatsu K &: Cancer Res, 55, 1774-1779, 1995 LOC "Komatsu K &: Hum Mol Genet, 2, N7, 1031-1034, 1993 LOC "Kurimasa A &: Hum Genet, 93, 21-26, 1994 LOC,MAP "Ladenburger EM &: CCG, 77, 268-270, 1997 CLO,SEQ,STR,EXP "Sipley JD &: PNAS, 92, 7515-7519, 1995 |
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KEY |
pep, repr |
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CLA |
coding, basic |
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LOC |
08 q11.2 |
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MIM |
MIM: 600899 |
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SYN |
HYRC1 SCID1 |
