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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
HNRNPDL - Heterogeneous Nuclear Ribonucleoprotein D Like
Alias:
HNRNP
JKTBP
HNRPDL
JKTBP2
LGMD1G
LGMDD3
laAUF1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于泛表达异质核核糖核蛋白(hnRNPs)的亚家族。hnRNPs是RNA结合蛋白,它们与异质核RNA(hnRNA)复合。这些蛋白质与核中的预mRNA相关联,并影响预mRNA的加工和mRNA代谢和运输的其他方面。虽然所有hnRNPs都在核中存在,但一些似乎在核质之间穿梭。hnRNP蛋白具有独特的核酸结合特性。这个基因编码的蛋白质具有两个与RNA结合的RRM结构域。已经描述了这个基因的三个可变剪接转录变异体。其中一个变异体可能不被翻译,因为该转录本是无义介导的mRNA衰减的候选物。这个基因编码的蛋白质同系物与HNRPD家族成员相似。[RefSeq提供,2011年5月]
Related ID:
NCBI:9987
ENSEMBL:ENSG00000152795
HGNC:5037
UNIPROT:O14979
OMIM:607137
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9987
2
8
7899 bp
46.44
310
1
2
21
HNRNPDL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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