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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
Fbln5 - fibulin 5
Alias:
A55
EVEC
DANCE
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
整合素结合活性。参与几个过程,包括弹性纤维组装;骨膜骨生长;以及RNA聚合酶II的转录调节。位于细胞外基质组织的上游或内部。与含有胶原的细胞外基质和弹性纤维共定位。在几个结构中表达,包括消化系统;心血管系统;中枢神经系统;胚胎间充质;和骨架。用于研究皮肤松弛症。这个基因的人类同源物与年龄相关性黄斑变性;常染色体显性皮肤松弛症2;常染色体隐性皮肤松弛症型IA;和皮肤松弛有关。与人类FBLN5(纤维蛋白5)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:23876
ENSEMBL:ENSMUSG00000021186
UNIPROT:Q9WVH9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
23876
14
12
72722 bp
50.19
6
5
Fbln5 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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