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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
MACROH2A1 - MacroH2A.1 Histone
Alias:
H2A.y
H2A/y
H2AFY
mH2A1
H2AF12M
MACROH2A1.1
macroH2A1.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
组蛋白是负责真核生物染色体纤维核小体结构的基本核蛋白质。核小体由约146bp的DNA围绕一组组蛋白八聚体组成,该八聚体由四种核心组蛋白(H2A、H2B、H3和H4)每对组成。通过连接蛋白H1与核小间DNA的相互作用,染色质纤维进一步压缩,形成更高阶的染色质结构。该基因编码一个复制独立的组蛋白,是组蛋白H2A家族的成员。它在一部分核小体中替换传统的H2A组蛋白,抑制转录并参与稳定的X染色体失活。可变剪接产生多种转录变异体,编码不同的异构体。[RefSeq,2015年10月提供]
Related ID:
NCBI:9555
ENSEMBL:ENSG00000113648
HGNC:4740
UNIPROT:O75367
OMIM:610054
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9555
13
9
65507 bp
39.18
9
1
9
30
MACROH2A1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
Title
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Journal
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No Data Found!
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