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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
人类
OBSCN - Obscurin, Cytoskeletal Calmodulin And Titin-interacting RhoGEF
Alias:
UNC89
RHABDO1
ARHGEF30
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
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720千道尔顿的蛋白质。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/钙调素结合结构域,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。这种蛋白质属于包括肌联蛋白和nebulin在内的巨型可变信号蛋白质家族,可能具有在组装过程中肌原纤维组织中的作用,并可能介导肌质网和肌原纤维之间的相互作用。已经发现了编码不同异型的替代剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:84033
ENSEMBL:ENSG00000154358
HGNC:15719
UNIPROT:Q5VST9
OMIM:608616
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
84033
4
116
170833 bp
868.48
3238
3
7
15
OBSCN Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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