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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
FLG - Filaggrin
Alias:
FLG1
ATOD2
FLG-1
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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种中间丝相关蛋白质,可以聚集哺乳动物表皮的角蛋白中间丝。它最初被合成作为一个多蛋白前体,即profilaggrin(由多个filaggrin单元组成,每个单元有324个氨基酸),该前体位于角蛋白颗粒中,然后被蛋白水解加工成单个的功能性filaggrin分子。这个基因的突变与寻常鱼鳞病有关。[由RefSeq,2009年12月提供]
Related ID:
NCBI:2312
ENSEMBL:ENSG00000143631
HGNC:3748
UNIPROT:P20930
OMIM:135940
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2312
1
3
23075 bp
435.17
1018
10
--
14
FLG 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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