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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
H2AZ1 - H2A.Z Variant Histone 1
Alias:
H2AZ
H2A.z
H2A/z
H2AFZ
H2A.Z-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
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。核小体由大约146bp的DNA围绕一个由四对核心组蛋白(H2A、H2B、H3和H4)组成的组蛋白八聚体组成。通过连接蛋白组蛋白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。这个基因编码一个与家族其他成员不同的、独立于复制的组蛋白H2A家族成员。研究表明,这种特定的组蛋白在胚胎发育中是必需的,缺乏功能的组蛋白H2A导致胚胎致死。[RefSeq,2008年7月提供]
Related ID:
NCBI:3015
ENSEMBL:ENSG00000164032
HGNC:4741
UNIPROT:P0C0S5
OMIM:142763
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3015
1
5
2188 bp
13.55
--
--
5
21
H2AZ1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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CAS Number
Status
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Link
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References Literature
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