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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
PPM1F - Protein Phosphatase, Mg2+/Mn2+ Dependent 1F
Alias:
CAMKP
FEM-2
POPX2
hFEM-2
CaMKPase
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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。这个磷酸酶可以与Rho鸟苷酸交换因子(PIX)相互作用,从而阻止p21激活的激酶1(PAK)的生物学效应,PAK是一种在Rho GTPases下游调节生物学效应的蛋白激酶。已发现钙/钙调素依赖性蛋白激酶IIγ(CAMK2G/CAMK-II)是这个磷酸酶的一个底物。过表达这个磷酸酶或CAMK2G已经显示可以调节半胱天冬酶依赖的凋亡。已经发现了一种替代剪接的转录变异体,但其全长性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9647
ENSEMBL:ENSG00000100034
HGNC:19388
UNIPROT:P49593
OMIM:619309
Basic Information
NCBI
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Exons
Length
MW (kDa)
Mutations
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Reference
9647
2
8
33424 bp
49.83
40
--
4
10
PPM1F Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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