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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
DOCK3 - Dedicator Of Cytokinesis 3
Alias:
PBP
MOCA
NEDIDHA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因在中枢神经系统(CNS)中特异地表达。它编码一个位于DOCK(细胞分裂指示器)家族中的鸟嘌呤核苷酸交换因子(GEFs)成员。这种蛋白质,细胞分裂指示器3(DOCK3),也被称为细胞粘附修饰因子(MOCA)和早老素结合蛋白(PBP)。DOCK3和DOCK1,-2和-4在其DHR-2(DOCK同源区域2)结构域中共享几个保守的氨基酸,这些氨基酸对于GEF活性是必需的,并通过其DHR-1结构域直接与WAVE蛋白(Wiskott-Aldrich综合征蛋白(WASP)家族Vrp1同源蛋白)结合。DOCK3通过刺激WAVE复合物的膜招募和激活小G蛋白Rac1,在CNS中诱导轴突生长。这个基因与一个类似于注意力缺陷多动障碍的表型相关,这是由复杂的染色体重排引起的。[由RefSeq,2010年8月提供]
Related ID:
NCBI:1795
ENSEMBL:ENSG00000088538
HGNC:2989
UNIPROT:Q8IZD9
OMIM:603123
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1795
28
53
709272 bp
233.10
107
3
4
8
DOCK3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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