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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
VPS72 - Vacuolar Protein Sorting 72 Homolog
Alias:
YL1
CFL1
Swc2
YL-1
TCFL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是两种多组件复合物的共享亚基,分别是组蛋白乙酰转移酶复合物TRRAP/TIP60和包含染色质重塑蛋白SRCAP的复合物。TRRAP/TIP60复合物乙酰化核组蛋白,对转录调控、双链DNA断裂修复和凋亡具有重要意义。包含SRCAP的复合物催化组蛋白H2A与组蛋白变异体Htz1(H2AFZ)在核小体中的交换。这个蛋白质可能负责结合H2AFZ,后者在染色体分离中发挥作用。这个蛋白质还可能参与调节长期造血干细胞的活性。可变剪接产生多种编码不同蛋白质异型的转录变异体。[RefSeq,2012年8月提供]
Related ID:
NCBI:6944
ENSEMBL:ENSG00000163159
HGNC:11644
UNIPROT:Q15906
OMIM:600607
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6944
4
6
13894 bp
40.59
1
--
3
10
VPS72 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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