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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
KRT80 - Keratin 80
Alias:
KB20
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
角蛋白是负责上皮细胞结构完整性的中间纤维蛋白,分为上皮角蛋白和头发角蛋白。这个基因的表达模式表明它编码一种II型上皮角蛋白,尽管编码的蛋白质在结构上更接近II型头发角蛋白。这种蛋白质参与细胞分化,在分化的早期阶段定位在桥粒斑块附近,然后在终末分化细胞中散布在整个细胞质中。II型角蛋白聚集在染色体12q13的区域。已经发现这个基因有两个转录变异体,编码两种不同的完全功能异构体。[RefSeq,2010年10月提供]
Related ID:
NCBI:144501
ENSEMBL:ENSG00000167767
HGNC:27056
UNIPROT:Q6KB66
OMIM:611161
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
144501
3
9
23019 bp
50.52
35
--
3
7
KRT80 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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