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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
Obscn - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Alias:
Gm878
UNC89
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
模糊蛋白基因跨越超过150千碱基对,包含超过80个外显子,编码一个大约8百万道尔顿的蛋白质。编码的蛋白质包含68个Ig结构域,2个纤连蛋白结构域,1个钙/钙调蛋白结合结构域,1个RhoGEF结构域和一个相关的PH结构域,以及2个丝氨酸-苏氨酸激酶结构域。这种蛋白质是包括肌纤蛋白和nebulin在内的三种巨型可变信号蛋白质之一。它可能参与肌原纤维在组装过程中的组织,也可能调节肌质网和肌原纤维之间的相互作用。虽然描述了编码不同异型的可变剪接转录变异体,但并非所有剪接变异体的完整长度都已了解。[由RefSeq,2010年1月提供]
Related ID:
NCBI:380698
ENSEMBL:ENSMUSG00000061462
UNIPROT:A2AAJ9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
380698
2
104
142120 bp
Unknown
7
2
Obscn Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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