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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
CDC42EP5 - CDC42 Effector Protein 5
Alias:
CEP5
Borg3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞分裂控制蛋白42(CDC42)是一种小Rho GTP酶,通过与其下游效应蛋白相互作用来调节含有F-肌动蛋白的结构的形成。这个基因编码的蛋白质是Borg(Rho GTP酶的结合物)家族的一员,Borg家族蛋白质含有CRIB(Cdc42/Rac交互结合)结构域,它们结合CDC42并负调控其功能。编码的蛋白质可能独立于CDC42结合而抑制c-Jun N-末端激酶(JNK)。该蛋白质还可能参与隔膜组织并诱导成纤维细胞中的伪足形成[RefSeq,2013年7月提供]
Related ID:
NCBI:148170
ENSEMBL:ENSG00000167617
HGNC:17408
UNIPROT:Q6NZY7
OMIM:609171
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
148170
1
3
8271 bp
15.21
17
--
1
2
CDC42EP5 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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