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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
PIEZO1 - Piezo Type Mechanosensitive Ion Channel Component 1
Alias:
ER
DHS
Mib
LMPH3
FAM38A
LMPHM6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一个机械激活的离子通道,将机械力与生物信号联系起来。编码的蛋白质含有36个跨膜结构域,并作为同源四聚体发挥作用。这个基因的缺陷与遗传性脱水性红细胞增多症有关。[RefSeq,2015年7月提供]
Related ID:
NCBI:9780
ENSEMBL:ENSG00000103335
HGNC:28993
UNIPROT:Q92508
OMIM:611184
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9780
1
51
69883 bp
286.79
1360
4
14
22
PIEZO1 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
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Interactions
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Acting
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Residues
Reference
Score
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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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