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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
Eng - endoglin
Alias:
Endo
CD105
S-endoglin
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有蛋白质同二聚化活性,并参与转化生长因子β结合活性。参与几个过程,包括循环系统发育;细胞分化的正向调节;以及基因表达的调控。在循环系统发育和正向调节血管生成的上游或内部发挥作用。位于内皮微颗粒中。在几个结构中表达,包括大脑;心血管系统;胚外血管系统;和肺。用于研究脑动脉静脉畸形和遗传性出血性毛细血管扩张症。这个基因的人类同源物涉及动脉静脉畸形;脑动脉静脉畸形;乳腺癌;遗传性出血性毛细血管扩张症;和颅内动脉瘤。与人类ENG(内皮苷)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:13805
ENSEMBL:ENSMUSG00000026814
UNIPROT:Q63961
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13805
3
15
36075 bp
70.02
10
17
Eng Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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