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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
KRT8 - Keratin 8
Alias:
K8
KO
CK8
CK-8
CYK8
K2C8
CARD2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是II型角蛋白家族的成员,位于染色体12的长臂上。I型和II型角蛋白异聚物形成中间大小的细胞质中间丝。这个基因的产物通常与角蛋白18二聚化,形成简单单层上皮细胞中的中间丝。这个蛋白在维持细胞结构完整性和信号传导以及细胞分化中发挥作用。这个基因的突变导致隐源性肝硬化。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2012年1月提供]
Related ID:
NCBI:3856
ENSEMBL:ENSG00000170421
HGNC:6446
UNIPROT:P05787
OMIM:148060
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3856
3
8
52670 bp
53.70
62
1
7
43
KRT8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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