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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
DNAAF4 - Dynein Axonemal Assembly Factor 4
Alias:
RD
DYX1
EKN1
DYXC1
CILD25
DYX1C1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有四肽重复结构的域的蛋白质。编码的蛋白质与雌激素受体和热休克蛋白Hsp70和Hsp90相互作用。已经证明在大鼠中的同源蛋白在发育中新皮层的神经迁移中发挥作用。涉及这个基因的染色体易位与发育性阅读障碍的易感性有关。这个基因的突变与阅读和拼写缺陷有关。可选的剪接导致多个转录变异体。还存在这个基因和下游细胞周期进程1(CCPG1)基因之间的读穿转录。[RefSeq,2011年3月提供]
Related ID:
NCBI:161582
ENSEMBL:ENSG00000256061
HGNC:21493
UNIPROT:Q8WXU2
OMIM:608706
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
161582
3
10
90480 bp
48.53
215
3
5
11
DNAAF4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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