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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
EPPK1 - Epiplakin 1
Alias:
EPIPL
EPIPL1
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Description
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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属于plakin家族蛋白质,它们在细胞骨架结构的组织中发挥作用。这个家族成员由几个高度同源的plakin重复序列组成。它可能的作用是维持上皮细胞中角质中间纤维网络的完整性。对正模小鼠蛋白质的研究表明,它在伤口愈合过程中加速角化细胞的迁移。[RefSeq,2013年10月提供]
Related ID:
NCBI:83481
ENSEMBL:ENSG00000261150
HGNC:15577
UNIPROT:P58107
OMIM:607553
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83481
6
2
21871 bp
555.66
159
--
2
18
EPPK1 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
Alphabetical
Interactions
Reset
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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