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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
DDX3X - DEAD-box Helicase 3 X-linked
Alias:
DBX
DDX3
HLP2
DDX14
CAP-Rf
MRX102
MRXSSB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是大DEAD-box蛋白质家族的成员,其特征是具有保守的Asp-Glu-Ala-Asp (DEAD)基序,并具有ATP依赖的RNA解旋酶活性。该蛋白质已被报道具有高水平的RNA非依赖ATP酶活性,与大多数DEAD-box解旋酶不同,ATP酶活性被认为是由RNA和DNA共同刺激的。该蛋白质具有多个保守结构域,被认为在细胞核和细胞质中发挥作用。细胞核作用包括转录调控、mRNP组装、pre-mRNA剪接和mRNA输出。在细胞质中,该蛋白质被认为参与翻译、细胞信号传导和病毒复制。这个基因的调控异常与肿瘤发生有关。这个基因在Y染色体非重组区域有一个平行基因。与这个基因和DDX3Y平行基因相似的假基因位于染色体4和X染色体上。选择性剪接导致多个转录变异体。[由RefSeq,2014年10月提供]
Related ID:
NCBI:1654
ENSEMBL:ENSG00000215301
HGNC:2745
UNIPROT:O00571
OMIM:300160
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
1654
5
17
31165 bp
73.24
594
6
15
70
DDX3X Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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