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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
DPH5 - Diphthamide Biosynthesis 5
Alias:
AD-018
CGI-30
NEDSFF
NPD015
HSPC143
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码二硫胺合成途径的组成部分。二硫胺是一种仅在翻译延长因子2上发现的翻译后修饰组氨酸残基。它从古细菌到人类都是保守的,并被白喉毒素和假单胞菌外毒素A靶向以阻止细胞蛋白质合成。这个蛋白质的酵母和中国仓鼠同源物催化延长因子2上组氨酸残基的三甲基化,从而产生随后的酰胺化产生二硫胺。已经发现这个基因的多个转录变异体编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:51611
ENSEMBL:ENSG00000117543
HGNC:24270
UNIPROT:Q9H2P9
OMIM:611075
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51611
9
8
36162 bp
31.65
9
1
4
12
DPH5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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No Data Found!
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