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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
PSD - Pleckstrin And Sec7 Domain Containing
Alias:
TYL
EFA6
PSD1
EFA6A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含Plekstrin同源性和SEC7结构域的蛋白质,作为鸟苷酸交换因子发挥作用。编码的蛋白质通过激活ADP-核糖基化因子6来调节信号传导。可变剪接导致多个转录变异体。[RefSeq,2012年8月提供]
Related ID:
NCBI:5662
ENSEMBL:ENSG00000059915
HGNC:9507
UNIPROT:A5PKW4
OMIM:602327
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5662
3
17
17328 bp
109.54
48
--
4
4
PSD Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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