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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
ADD1 - Adducin 1
Alias:
ADDA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肌动蛋白是一类由三个基因(α,β和γ)编码的细胞骨架蛋白家族。肌动蛋白作为相关α,β或γ亚基的异源二聚体发挥作用。此基因编码的蛋白质代表α亚基。α和β肌动蛋白包括一个抗蛋白酶N端区域和一个对蛋白酶敏感的亲水C端区域。肌动蛋白与Ca(2+)/钙调素具有高亲和力,并作为蛋白激酶A和C的底物。[RefSeq,2017年8月提供]
Related ID:
NCBI:118
ENSEMBL:ENSG00000087274
HGNC:243
UNIPROT:P35611
OMIM:102680
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
118
24
16
86219 bp
80.95
31
1
3
22
ADD1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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