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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
HNRNPD - Heterogeneous Nuclear Ribonucleoprotein D
Alias:
P37
AUF1
AUF1A
HNRPD
hnRNPD0
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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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是核酸结合蛋白,它们与异质核RNA(hnRNA)复合。这些蛋白与核中的预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,但一些似乎在核和细胞质之间穿梭。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重复的与RNA结合的拟RRM结构域。它定位在核和细胞质中。这个蛋白与mRNA稳定性的调节有关。这个基因的可变剪接导致四个转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3184
ENSEMBL:ENSG00000138668
HGNC:5036
UNIPROT:Q14103
OMIM:601324
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3184
4
9
21494 bp
38.43
18
--
7
36
HNRNPD Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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