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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
DDX5 - DEAD-box Helicase 5
Alias:
p68
HLR1
G17P1
HUMP68
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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DEAD盒家族的一员,该家族是RNA解旋酶,参与各种细胞过程,作为接头分子,促进与大量其他因素的相互作用。这种蛋白质涉及包括改变RNA结构的路径,作为转录的共同调节因子,剪接调节剂,以及小非编码RNA的处理。这个家族的成员包含九个保守基序,包括保守的Asp-Glu-Ala-Asp (DEAD)基序,对于ATP结合和水解以及RNA结合和解旋活性非常重要。这个基因的调控异常可能在癌症发展中起作用。可变剪接导致多个转录变异体。[由RefSeq,2017年9月提供]
Related ID:
NCBI:1655
ENSEMBL:ENSG00000108654
HGNC:2746
UNIPROT:P17844
OMIM:180630
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1655
5
13
8613 bp
69.15
13
--
4
45
DDX5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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