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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
Col3a1 - collagen, type III, alpha 1
Alias:
Tsk2
Tsk-2
Col3a-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码在骨骼、软骨、牙本质、肌腱、骨髓基质和其他结缔组织中形成的纤维型III型胶原的α-1亚基。编码的蛋白质形成同源三聚型III型原胶原,在纤维形成过程中经历蛋白水解加工。大多数缺乏编码蛋白质的小鼠在出生后的两天内死亡,但约5%的动物存活至成年。存活的小鼠表现出严重的皮质畸形,寿命显著缩短。发现表现出系统性硬皮病表型的名为“tight skin 2”的突变小鼠在这个基因中携带一个错义点突变。这个基因的一个假基因已经在染色体8上定义。[由RefSeq,2015年11月提供]
Related ID:
NCBI:12825
ENSEMBL:ENSMUSG00000026043
UNIPROT:P08121
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12825
1
51
38169 bp
138.94
8
14
Col3a1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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