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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
Dmpk - dystrophia myotonica-protein kinase
Alias:
DM
DMK
Dm15
MDPK
MT-PK
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是一种丝氨酸/苏氨酸蛋白激酶,包含螺旋卷和C端膜结合结构域。在胚胎小鼠中,它存在于心脏和骨骼肌细胞中,似乎在肌生成中发挥作用。在成人中,该转录本位于包括大脑、心脏、骨骼和平滑肌在内的几种组织中,并描述了在细胞骨架重塑中的功能。在3'非翻译区具有扩增的CUG重复的转录本调节几个基因的可变剪接,并隔离含有CAG重复序列的RNA结合蛋白质和RNA转录本,导致肌营养不良,这是一种常染色体显性神经肌肉障碍。可变剪接导致多种蛋白质编码和非编码转录变异体。[由RefSeq,2014年10月提供]
Related ID:
NCBI:13400
ENSEMBL:ENSMUSG00000030409
UNIPROT:P54265
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13400
11
15
10176 bp
69.60
6
14
Dmpk Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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