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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
Was - Wiskott-Aldrich syndrome
Alias:
Wasp
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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具有相同的蛋白质结合活性。在几个过程的上游或内部发挥作用,包括肌动蛋白丝聚合;细胞对干扰素-γ的反应;以及内质网运输。位于细胞间连接;吞噬泡;和泡膜上。在大脑;心脏;肝脏;和脾脏中表达。用于研究IgA肾小球肾炎和Wiskott-Aldrich综合征。这个基因的人类同源物与Wiskott-Aldrich综合征;X连锁严重先天性中性粒细胞减少症;和血小板减少症有关。与人类WAS(WASP肌动蛋白成核促进因子)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:22376
ENSEMBL:ENSMUSG00000031165
UNIPROT:P70315
Basic Information
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Length
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22376
1
12
9026 bp
54.19
10
7
Was Genetics information (-)
GRCm39
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* This data comes from NCBI.
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