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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
NSD3 - Nuclear Receptor Binding SET Domain Protein 3
Alias:
KMT3F
KMT3G
WHISTLE
WHSC1L1
pp14328
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因与Wolf-Hirschhorn综合症候选基因1有关,编码一个具有PWWP(脯氨酸-色氨酸-色氨酸-脯氨酸)结构域的蛋白质。这个蛋白质在赖氨酸残基4和27处对组蛋白H3进行甲基化,从而抑制基因的转录。已经描述了两个可变剪接的变异体。[由RefSeq,2015年5月提供]
Related ID:
NCBI:54904
ENSEMBL:ENSG00000147548
HGNC:12767
UNIPROT:Q9BZ95
OMIM:607083
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54904
2
24
112568 bp
161.61
27
--
5
17
NSD3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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