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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Prkdc - protein kinase, DNA activated, catalytic polypeptide
Alias:
p460
scid
slip
DNAPK
DNPK1
HYRC1
XRCC7
dxnph
DOXNPH
DNAPDcs
DNA-PKcs
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活DNA依赖的蛋白激酶活性;双链DNA结合活性;和酶结合活性。参与几个过程,包括细胞蛋白质代谢过程的调节;造血干细胞分化的调节;和造血的调节。在几个过程的上游或内部发挥作用,包括DNA代谢过程;异位生殖细胞程序性细胞死亡;和免疫系统的发育。位于细胞核中。在几个结构中表达,包括中枢神经系统;神经视网膜;和胸腺原基。用于研究严重的联合免疫缺陷,常染色体隐性,T细胞阴性,B细胞阴性,Nk细胞阳性。这个基因的人类同源物与免疫缺陷26有关。与人类PRKDC(蛋白激酶,DNA激活,催化亚基)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:19090
ENSEMBL:ENSMUSG00000022672
UNIPROT:P97313
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19090
3
86
204406 bp
471.47
45
16
Prkdc Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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