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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
PPP2R2A - Protein Phosphatase 2 Regulatory Subunit Balpha
Alias:
B55A
PR52A
PR55A
B55ALPHA
PR55alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物属于磷酸酶2调节亚单位B家族。蛋白磷酸酶2是四种主要的Ser/Thr磷酸酶之一,与细胞生长和分裂的负调控有关。它由一个共同的异源核心酶组成,该酶由一个催化亚单位和一个恒定的调节亚单位组成,可以与各种调节亚单位结合。B调节亚单位可能调节底物选择性和催化活性。这个基因编码调节亚单位B55亚家族的一个α异构体。已经描述了可变剪接的转录变异体。[由RefSeq,2010年4月提供]
Related ID:
NCBI:5520
ENSEMBL:ENSG00000221914
HGNC:9304
UNIPROT:P63151
OMIM:604941
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5520
10
10
81173 bp
51.69
20
--
5
14
PPP2R2A 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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