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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
F5 - coagulation factor V
Alias:
Cf5
Cf-5
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种糖蛋白凝血因子,在血液凝固和止血过程中起着关键作用。编码的蛋白质被血栓酶激活,生成一个包含重链和轻链的异源二聚体,通过钙离子连接在一起。大约一半缺乏编码蛋白质的小鼠在胚胎阶段死亡,可能是由于卵黄囊血管系统的异常。而剩下的动物在出生后立刻因大量出血而死亡。这个基因中的一个点突变已被证明会导致围产期弥漫性血管内血栓形成,导致新生小鼠的频繁死亡。[RefSeq,2015年4月提供]
Related ID:
NCBI:14067
ENSEMBL:ENSMUSG00000026579
UNIPROT:O88783
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
14067
1
25
69144 bp
247.23
4
4
F5 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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