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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
PPM1B - Protein Phosphatase, Mg2+/Mn2+ Dependent 1B
Alias:
PP2CB
PP2CBETA
PP2C-beta
PPC2BETAX
PP2C-beta-X
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是Ser/Thr蛋白磷酸酶PP2C家族的成员。PP2C家族成员已知是细胞应激响应途径的负调控因子。这个磷酸酶已被证明可以脱磷酸化细胞周期蛋白依赖性激酶(CDKs),因此可能涉及细胞周期控制。过表达这个磷酸酶已被报道会导致细胞生长停滞或细胞死亡。可变剪接产生多个转录变异体,编码不同的异构体。其他转录变异体已被描述,但目前不代表完整的长序列。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5495
ENSEMBL:ENSG00000138032
HGNC:9276
UNIPROT:O75688
OMIM:603770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5495
8
6
78054 bp
52.64
22
1
5
16
PPM1B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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