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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
人类
CD19 - CD19 Molecule
Alias:
B4
CVID3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因编码免疫球蛋白基因超家族的一员。这个细胞表面蛋白的表达仅限于B细胞淋巴细胞。这个蛋白是前B细胞的可靠标志物,但在抗体分泌的浆细胞中,其在终端B细胞分化过程中的表达减少。这个蛋白由两个N-端胞外Ig样结构域和一个非Ig样结构域分隔,一个疏水跨膜结构域,和一个大的C-端胞质结构域组成。这个蛋白与几种膜蛋白形成复合物,包括补体受体2型(CD21)和四跨膜蛋白(CD81),这个复合物降低了抗原启动B细胞激活的阈值。这个B细胞抗原受体的激活激活了磷酸肌醇3-激酶信号通路,并随后释放细胞内钙离子的储存。这个蛋白是用于治疗成淋巴细胞白血病的嵌合抗原受体(CAR)T细胞的靶点。这个基因的突变与常见可变免疫缺陷3(CVID3)疾病有关,该疾病导致B细胞分化失败和免疫球蛋白免疫球蛋白的分泌受损。CVID3的特征是低丙种球蛋白血症,对抗原无法产生抗体反应,以及反复的细菌感染。可变剪接产生多个编码不同异形体的转录变异体。[由RefSeq,2020年7月提供]
Related ID:
NCBI:930
ENSEMBL:ENSG00000177455
HGNC:1633
UNIPROT:P15391
OMIM:107265
Basic Information
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930
4
15
7372 bp
61.13
295
3
10
23
CD19 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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