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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
Ap4s1 - adaptor-related protein complex AP-4, sigma 1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码适配器相关蛋白复合物4的σ亚基,该复合物调节内质网和分泌运输途径的细胞内膜动态。这个复合物包含四个亚基,β、ε、μ和σ,属于一个包含五个适配器蛋白复合物的家族,包括三个与clathrin相关的复合物和两个与非clathrin相关的复合物,这些复合物定位到不同的细胞内腔室,并使用不同的途径调节膜囊泡的动态。在人类中,这个基因的失功能突变与特定的适配器复合物4缺乏症有关,包括遗传性痉挛性截瘫。交替剪接导致多个转录变异体。[由RefSeq,2016年7月提供]
Related ID:
NCBI:11782
ENSEMBL:ENSMUSG00000020955
UNIPROT:Q9WVL1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11782
5
6
77172 bp
16.82
3
3
Ap4s1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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