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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
APBB1 - Amyloid Beta Precursor Protein Binding Family B Member 1
Alias:
RIR
FE65
MGC:9072
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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Fe65蛋白质家族的一员。它是一个定位在细胞核的衔接蛋白。它与阿尔茨海默病的淀粉样前体蛋白(APP)、转录因子CP2/LSF/LBP1和低密度脂蛋白相关蛋白相互作用。APP作为胞质锚定位点,可以防止基因产物的核易位。这个编码的蛋白质可能在阿尔茨海默病的病理过程中发挥重要作用。它被认为可以调节转录。此外,还发现它可以通过下调胸苷酸合酶表达来阻止细胞周期进程。这个基因有多个可变剪接转录变异体,编码不同的异构体。[RefSeq,2012年3月提供]
Related ID:
NCBI:322
ENSEMBL:ENSG00000166313
HGNC:581
UNIPROT:O00213
OMIM:602709
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
322
8
15
24330 bp
77.24
28
4
6
19
APBB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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