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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
KRTAP1-4 - Keratin Associated Protein 1-4
Alias:
KAP1.4
KRTAP1.4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
哺乳动物毛发的主要结构蛋白是头发角蛋白(MIM 601077)和与角蛋白相关的蛋白质(KAPs),它们通过与其他头发角蛋白中的丰富半胱氨酸形成大量的二硫键交联,形成坚硬且有弹性的毛干(Shimomura等人,2002年[PubMed 12228244])。[由OMIM于2009年1月提供]
Related ID:
NCBI:728255
ENSEMBL:ENSG00000204887
HGNC:18904
UNIPROT:P0C5Y4
OMIM:608821
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
728255
1
1
845 bp
12.32
--
--
7
2
KRTAP1-4 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
Reset
Acting
Regulation
Detail
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Target
Residues
Reference
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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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