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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
RHOBTB1 - Rho Related BTB Domain Containing 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于小GTP酶超家族中的Rho家族。它包含一个GTP酶结构域,一个富含脯氨酸的区域,一个由2个BTB(广泛复杂、有轨电车和碎屑-a-碎屑)结构域组成的串联结构,以及一个保守的C端区域。该蛋白质在小型GTP酶介导的信号传导和肌动蛋白丝系统组织中发挥作用。交替剪接导致多个转录变异体。[由RefSeq提供,2008年12月]
Related ID:
NCBI:9886
ENSEMBL:ENSG00000072422
HGNC:18738
UNIPROT:O94844
OMIM:607351
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9886
52
11
141108 bp
79.42
14
--
3
4
RHOBTB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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