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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
DOCK8 - Dedicator Of Cytokinesis 8
Alias:
MRD2
ZIR8
HEL-205
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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DOCK180家族的一员,DOCK180家族是鸟嘌呤核苷酸交换因子。鸟嘌呤核苷酸交换因子与Rho GTPases相互作用,是细胞内信号传导网络的组成部分。这个基因的突变导致常染色体隐性遗传的超IgE综合征。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq提供,2010年6月]
Related ID:
NCBI:81704
ENSEMBL:ENSG00000107099
HGNC:19191
UNIPROT:Q8NF50
OMIM:611432
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81704
17
48
253999 bp
238.53
2126
4
19
18
DOCK8 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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References Literature
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