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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
Add2 - adducin 2 (beta)
Alias:
add97
2900072M03Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码促动蛋白家族的β亚基。促动蛋白,由α、β和γ基因编码,是异源二聚蛋白,在细胞骨架膜上将肌动蛋白丝与谱蛋白交联。这种蛋白质主要存在于大脑和造血细胞中,其调节受磷酸化和钙调素相互作用的调控,因为它促进谱蛋白组装到肌动蛋白丝上,将肌动蛋白束合并成束,并覆盖肌动蛋白丝的尖端。在鼠中,这个基因的缺乏可能导致轻度溶血性贫血和突触可塑性受损。这个基因的鼠突变可以作为遗传性球形细胞症和遗传性椭球形细胞症的病理生理模型。可变剪接导致编码不同蛋白质异型的多种转录变异体。[由RefSeq,2012年12月提供]
Related ID:
NCBI:11519
ENSEMBL:ENSMUSG00000030000
UNIPROT:Q9QYB8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11519
6
16
95729 bp
80.64
5
15
Add2 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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