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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
Bmper - BMP-binding endothelial regulator
Alias:
Cv2
CV-2
Crim3
3110056H04Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码一个分泌蛋白,该蛋白含有五个 Von Willebrand 因子 C 型结构域和一个 Von Willebrand 因子 D 型结构域以及一个类似胰蛋白酶抑制结构的域。编码的蛋白与骨形态发生蛋白(BMP)结合并调节其活性。人类中相关基因的突变导致透明棘状骨发育不良。[RefSeq,2013年3月提供]
Related ID:
NCBI:73230
ENSEMBL:ENSMUSG00000031963
UNIPROT:Q8CJ69
Basic Information
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Length
MW (kDa)
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73230
1
15
262140 bp
76.15
6
4
Bmper Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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