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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
Hap1 - huntingtin-associated protein 1
Alias:
HAP-1
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Description
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质最初被鉴定为一种与HD蛋白huntingtin结合的神经元蛋白质。该蛋白质还与微管蛋白轻链、14-3-3蛋白和Abelson辅助整合位点1蛋白相互作用。该蛋白质参与囊泡和细胞器的细胞内运输,缺乏该蛋白质导致神经元死亡,类似于亨廷顿病中发生的下丘脑变性。已发现这个基因有多个编码不同异型的转录变异体。[由RefSeq,2009年4月提供]
Related ID:
NCBI:15114
ENSEMBL:ENSMUSG00000006930
UNIPROT:O35668
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
15114
7
13
9656 bp
70.12
9
13
Hap1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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