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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
Efemp2 - epidermal growth factor-containing fibulin-like extracellular matrix protein 2
Alias:
MBP1
Fbln4
0610011K11Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
肝素结合活性和蛋白质同源二聚化活性。参与几个过程,包括弹性纤维组装;负调控血管相关平滑肌细胞增殖;和血管发育。在动脉发育的上游或内部发挥作用。位于基底膜;弹性纤维;和微原纤维。在几个结构中表达,包括中枢神经系统;生殖泌尿系统;肠道;免疫系统;和呼吸系统。用于研究主动脉瘤和皮肤松弛症。这个基因的人类同源物涉及主动脉瘤;动脉扭曲综合征;常染色体隐性皮肤松弛症IB型;子宫内膜癌;和骨肉瘤。与人类EFEMP2(含EGF的纤连蛋白细胞外基质蛋白2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:58859
ENSEMBL:ENSMUSG00000024909
UNIPROT:Q9WVJ9
Basic Information
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Length
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58859
8
11
8575 bp
49.42
10
22
Efemp2 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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