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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
CDKN1B - Cyclin Dependent Kinase Inhibitor 1B
Alias:
KIP1
MEN4
CDKN4
MEN1B
P27KIP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个细胞周期蛋白依赖的激酶抑制剂,它与CDK抑制剂CDKN1A/p21有有限的相似性。编码的蛋白质结合并防止细胞周期蛋白E-CDK2或细胞周期蛋白D-CDK4复合物的激活,从而控制G1期的细胞周期进程。这个蛋白质的降解是由其CDK依赖的磷酸化和SCF复合物随后的泛素化触发的,这是细胞从静止状态过渡到增殖状态所必需的。这个基因的突变与多发性内分泌肿瘤4型(MEN4)有关。[由RefSeq,2014年4月提供]
Related ID:
NCBI:1027
ENSEMBL:ENSG00000111276
HGNC:1785
UNIPROT:P46527
OMIM:600778
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1027
1
3
5002 bp
22.07
812
3
20
34
CDKN1B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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