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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
SUV39H1 - SUV39H1 Histone Lysine Methyltransferase
Alias:
MG44
KMT1A
SUV39H
H3-K9-HMTase 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个进化保守的蛋白质,该蛋白质含有N端的色氨酸域和C端的SET域。编码的蛋白质是一种组蛋白甲基转移酶,可以三甲基化组蛋白H3的赖氨酸9,导致转录基因沉默。这个基因的功能丧失会破坏异染色质的形成,可能导致染色体不稳定。可变剪接导致多个转录变异体。[RefSeq,2013年8月提供]
Related ID:
NCBI:6839
ENSEMBL:ENSG00000101945
HGNC:11479
UNIPROT:O43463
OMIM:300254
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6839
2
6
13463 bp
47.91
7
--
7
35
SUV39H1 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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