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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
APBA1 - Amyloid Beta Precursor Protein Binding Family A Member 1
Alias:
X11
X11A
LIN10
MINT1
D9S411E
X11ALPHA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是X11蛋白质家族的一员。它是一个与阿尔茨海默病淀粉样前体蛋白(APP)相互作用的神经元适配器蛋白质。它稳定APP并抑制其蛋白水解片段的产生,包括在阿尔茨海默病患者大脑中沉积的Aβ肽。这个基因产品被认为涉及信号传导过程。它还被认为是大脑中的拟囊泡运输蛋白质,可以形成与突触囊泡外泌与神经元细胞粘附潜在耦合的复合物。[由RefSeq,2008年7月提供]
Related ID:
NCBI:320
ENSEMBL:ENSG00000107282
HGNC:578
UNIPROT:Q02410
OMIM:602414
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
320
5
13
245482 bp
92.86
29
--
5
10
APBA1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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References Literature
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