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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
MDM4 - MDM4 Regulator Of P53
Alias:
HDMX
MDMX
MRP1
BMFS6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码一个核蛋白,其N端包含一个p53结合域,C端包含一个RING指域,并与p53结合蛋白MDM2具有结构相似性。这两种蛋白质都与p53肿瘤抑制蛋白结合并抑制其活性,并已显示在多种人类癌症中过表达。然而,与通过降解p53来抑制p53的MDM2不同,这种蛋白质通过结合其转录激活域来抑制p53。这种蛋白质还通过RING指域与MDM2蛋白相互作用,并抑制后者的降解。因此,这种蛋白质可以逆转MDM2靶向降解的p53,同时保持对p53转录激活和凋亡功能的抑制。已注意到这种基因的可变剪接转录变体编码不同的等位基因。[由RefSeq提供,2011年2月]
Related ID:
NCBI:4194
ENSEMBL:ENSG00000198625
HGNC:6974
UNIPROT:O15151
OMIM:602704
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
4194
16
11
41715 bp
54.86
22
1
14
12
MDM4 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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