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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
DOCK6 - Dedicator Of Cytokinesis 6
Alias:
AOS2
ZIR1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码细胞分裂指示蛋白(DOCK)家族的一个成员,该家族是异常鸟嘌呤核苷酸交换因子。鸟嘌呤核苷酸交换因子与小型GTP酶相互作用,并作为细胞内信号传导网络的组件。编码的蛋白质是C组DOCK蛋白,通过激活Rho GTPases Cdc42和Rac1参与肌动蛋白细胞骨架的重塑。这个基因的突变与Adams-Oliver综合征2有关。[RefSeq提供,2011年12月]
Related ID:
NCBI:57572
ENSEMBL:ENSG00000130158
HGNC:19189
UNIPROT:Q96HP0
OMIM:614194
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57572
11
48
63230 bp
229.56
1055
4
4
11
DOCK6 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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No Data Found!
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