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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
DDX19B - DEAD-box Helicase 19B
Alias:
DBP5
RNAh
DDX19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
DEAD盒蛋白,以其保守的基序Asp-Glu-Ala-Asp (DEAD)为特征,是潜在的RNA解旋酶。它们与许多涉及RNA二级结构改变的细胞过程有关,如翻译起始、核和线粒体剪接、核糖体和合切核糖体的组装。根据它们的分布模式,这个家族的某些成员被认为参与胚胎发生、精子发生和细胞生长和分裂。这个基因编码一个DEAD盒蛋白,表现出RNA依赖的ATP酶和ATP依赖的RNA解旋活性。这种蛋白被招募到核孔复合物的细胞质原纤维中,参与mRNA从核的输出。已经发现这个基因的多个可变剪接转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11269
ENSEMBL:ENSG00000157349
HGNC:2742
UNIPROT:Q9UMR2
OMIM:605812
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11269
8
12
45539 bp
53.93
13
--
4
11
DDX19B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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