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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
Col5a2 - collagen, type V, alpha 2
Alias:
1110014L14Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这种基因编码V型胶原的α-2亚基,是低丰度纤维胶原之一,与I型胶原一起结合到生长中的原纤维中。编码的蛋白质与α-1和/或α-3亚基结合,形成同源或异源的三聚V型原胶原,然后进行蛋白水解加工。缺乏编码蛋白质的小鼠在子宫内死亡。产生结构异常形式的编码蛋白质的转基因小鼠存活率较低,皮肤脆弱,骨骼异常,以及胶原纤维组织改变。[由RefSeq,2015年12月提供]
Related ID:
NCBI:12832
ENSEMBL:ENSMUSG00000026042
UNIPROT:Q3U962
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12832
1
54
128952 bp
145.02
3
6
Col5a2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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