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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
小鼠
Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Alias:
TG-B
Tg(TcraK,TcrbK)TG-BFlv
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有相同的蛋白质结合活性;磷酸酶活性;和淀粉结合活性。参与碳水化合物磷酸化和糖原代谢过程。在几个过程的上游或内部发挥作用,包括糖原生物合成过程;习惯化;和细胞蛋白质代谢过程的调节。位于几个细胞组件中,包括内质网膜的胞质侧;树突;和胞质。在几个结构中表达,包括大脑。用于研究Lafora病和淋巴瘤。这个基因的人类同源物与Lafora病和进行性肌阵挛癫痫有关。与人类EPM2A(EPM2A葡聚糖磷酸酶,laforin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:13853
ENSEMBL:ENSMUSG00000055493
UNIPROT:Q9WUA5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13853
1
4
116974 bp
36.96
6
16
Epm2a Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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