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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
ACTG2 - Actin Gamma 2, Smooth Muscle
Alias:
ACT
ACTE
VSCM
ACTA3
ACTL3
ACTSG
VSCM1
MMIHS5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌动蛋白是一种高度保守的蛋白质,参与各种类型的细胞运动和细胞骨架的维持。在脊椎动物中已经发现了三种类型的肌动蛋白:α、β和γ。α肌动蛋白存在于肌肉组织中,是收缩装置的主要组成部分。β和γ肌动蛋白作为细胞骨架的组成成分和内部细胞运动的媒介,存在于大多数细胞类型中。这个基因编码肌动蛋白γ2;这是一种在肠组织中发现的平滑肌肌动蛋白。可变剪接导致多个转录变异体,编码不同的异构体。根据与相关肌动蛋白的肽裂解相似性,这个基因的成熟蛋白质是通过去除两个N-末端肽而形成的。[RefSeq,2010年12月提供]
Related ID:
NCBI:72
ENSEMBL:ENSG00000163017
HGNC:145
UNIPROT:P63267
OMIM:102545
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
72
2
9
26858 bp
41.88
75
9
4
20
ACTG2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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