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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
ACTL6A - Actin Like 6A
Alias:
Arp4
ACTL6
BAF53A
INO80K
SMARCN1
ARPN-BETA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肌动蛋白相关蛋白(ARPs)家族成员,与传统的肌动蛋白具有显著的氨基酸序列一致性。肌动蛋白和ARPs都具有肌动蛋白折叠结构,这是一个ATP结合槽,作为共同特征。ARPs参与多种细胞过程,包括囊泡运输、纺锤体定向、核迁移和染色质重塑。这个基因编码哺乳动物BAF(BRG1/brm相关因子)复合物的53kDa亚基蛋白,该复合物在功能上与酿酒酵母和果蝇的SWI/SNF复合物相关;后者被认为通过对抗染色质介导的转录抑制来促进特定基因的转录激活。与β-肌动蛋白一起,它对于BRG1的最大ATP酶活性和BAF复合物与染色质/基质的关联是必需的。已经描述了三种编码两种不同蛋白质异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:86
ENSEMBL:ENSG00000136518
HGNC:24124
UNIPROT:O96019
OMIM:604958
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
86
3
14
25482 bp
47.46
29
1
3
27
ACTL6A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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