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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
HNRNPH1 - Heterogeneous Nuclear Ribonucleoprotein H1
Alias:
HNRPH
HNRPH1
NEDCDS
hnRNPH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个广泛表达的异质核核糖核蛋白(hnRNP)亚家族的成员。hnRNPs是与异质核RNA复合的RNA结合蛋白。这些蛋白质与核中的预mRNA相关联,并似乎影响预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,但某些可能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三个重复的拟RRM结构域,可以结合RNA,并且与家族成员HNRPF非常相似。这个基因可能与遗传性淋巴水肿类型I有关。已经描述了可变剪接的转录变异体[由RefSeq,2012年3月提供]
Related ID:
NCBI:3187
ENSEMBL:ENSG00000169045
HGNC:5041
UNIPROT:P31943
OMIM:601035
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3187
52
14
20607 bp
49.23
34
2
4
26
HNRNPH1 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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