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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
KRT10 - Keratin 10
Alias:
BIE
EHK
IHL
K10
KPP
BCIE
CK10
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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I型(酸性)角蛋白家族的成员,属于中间丝(IF)蛋白质超家族。角蛋白是异聚结构蛋白,形成中间丝。这些丝状物,与肌动蛋白微丝和微管一起,组成上皮细胞的细胞骨架。这个基因的突变与表皮松解性角化过度有关。这个基因位于染色体17q21上的一个角蛋白家族成员簇内。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3858
ENSEMBL:ENSG00000186395
HGNC:6413
UNIPROT:P13645
OMIM:148080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3858
2
8
4498 bp
58.83
147
8
6
37
KRT10 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
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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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