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中文人类
EFTUD2 - Elongation Factor Tu GTP Binding Domain Containing 2
Alias:
MFDM
MFDGA
Snu114
Snrp116
SNRNP116
U5-116KD
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这个基因编码一种GTP酶，是剪接体复合体的组成部分，剪接体复合体处理前体mRNA以产生成熟mRNA。这个基因的突变与下颌面发育异常和微头畸形有关。已经发现这个基因有多种转录变异体，编码不同的异构体。[由RefSeq于2012年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EFTUD2 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
