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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
Zap70 - zeta-chain (TCR) associated protein kinase
Alias:
Srk
mur
mrtle
ZAP-70
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个蛋白质酪氨酸激酶家族的成员。编码的蛋白质对T淋巴细胞的发育和胸腺细胞的发育是必不可少的,并在T淋巴细胞受体介导的信号传导的初始步骤中发挥作用。这个基因的突变导致慢性自身免疫性关节炎,类似于人类的风湿性关节炎。缺乏这个基因的小鼠在胸腺中缺乏α-β T淋巴细胞。在人类中,这个基因的突变导致选择性T细胞缺陷,这是一种严重的联合免疫缺陷疾病的特征,表现为选择性缺乏CD8阳性T淋巴细胞。选择性剪接导致多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:22637
ENSEMBL:ENSMUSG00000026117
UNIPROT:P43404
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
22637
5
13
21024 bp
70.11
24
16
Zap70 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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