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中文人类
DPH1 - Diphthamide Biosynthesis 1
Alias:
DPH2L
OVCA1
DEDSSH
DPH2L1
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这个基因编码的蛋白质是一种酶，参与diphthamide的生物合成，diphthamide是一种仅存在于延伸因子-2 (EEF2)中的修饰组氨酸。EEF2中的diphthamide残基是白喉毒素和假单胞菌外毒素A的ADP-核糖基化的靶点。这个基因的缺陷与卵巢癌和常染色体隐性智力障碍有关，伴有矮小、颅面部和外胚层异常。[RefSeq,2016年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DPH1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
