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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
Col27a1 - collagen, type XXVII, alpha 1
Alias:
5730512J02Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码XXVII型胶原蛋白的α1亚基,这是一种在软骨中发现的低丰度原纤维形成胶原蛋白之一。编码的蛋白质形成同源三聚体三股螺旋前胶原蛋白,在纤维形成过程中进行蛋白水解加工。缺乏编码蛋白质中胶原区段的部分的转基因小鼠表现出骨骼异常、软骨发育不良,并在出生时因肺部缺陷而死亡。[RefSeq,2015年12月提供]
Related ID:
NCBI:373864
ENSEMBL:ENSMUSG00000045672
UNIPROT:Q5QNQ9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
373864
11
61
120983 bp
186.32
4
5
Col27a1 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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