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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
HNRNPM - Heterogeneous Nuclear Ribonucleoprotein M
Alias:
CEAR
HNRPM
HTGR1
NAGR1
HNRPM4
HNRNPM4
hnRNP M
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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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。这些蛋白与核中的预mRNA相关联,似乎影响预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三个重复的拟RRM结构域,可以结合RNA。这个蛋白质还是N-乙酰葡萄糖苷-特异性受体的单体,据推测可以触发未成熟的带有GlcNAc的甲状腺球蛋白分子的选择性回收。可变剪接导致多个转录变异体。[RefSeq,2011年8月提供]
Related ID:
NCBI:4670
ENSEMBL:ENSG00000099783
HGNC:5046
UNIPROT:P52272
OMIM:160994
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
4670
13
16
44140 bp
77.52
28
--
3
26
HNRNPM Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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