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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
ADD3 - Adducin 3
Alias:
ADDL
CPSQ3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
添加素是由不同称为添加素α、β和γ的亚基组成的异质蛋白质。这三个亚基由不同的基因编码,属于膜骨架蛋白家族,参与红细胞中谱蛋白-肌动蛋白网络的组装以及上皮组织中细胞-细胞接触部位的组装。虽然添加素α和γ在广泛组织中表达,但添加素β的表达仅限于大脑和造血组织。添加素最初从人红细胞中纯化,被发现是添加素α和β的异二聚体。在这些亚基中导致氨基酸替换的多态性已与其在高血压动物模型中血压调节的调控有关。也描述了由α和γ亚基组成的异二聚体。在结构上,每个亚基由两个不同的结构域组成。氨基端区域是抗蛋白酶的且呈球形,而羧基端区域是蛋白酶敏感的。后者包含蛋白质激酶C的多个磷酸化位点,是与钙调素结合的位点,并且与谱蛋白和肌动蛋白的关联是必需的。描述了编码不同异构体的替代剪接添加素γ转录本。不同异构体的功能尚不清楚。[由RefSeq,2008年7月提供]
Related ID:
NCBI:120
ENSEMBL:ENSG00000148700
HGNC:245
UNIPROT:Q9UEY8
OMIM:601568
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
120
31
15
139193 bp
79.16
154
3
7
22
ADD3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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