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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
Pnkd - paroxysmal nonkinesiogenic dyskinesia
Alias:
MR-1
Brp17
Tahccp2
MNCb-5687
2210013N15Rik
2810403H05Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能激活水解酶活性。在化学突触传递的调节上游或内进行作用;控制姿势的神经肌肉过程;以及调节多巴胺代谢过程。位于线粒体中。在中枢神经系统和视网膜中表达。用于研究阵发性非运动性舞蹈症1。此基因的人类同源物与阵发性非运动性舞蹈症1有关。与人类PNKD(PNKD金属β-内酰胺酶结构域含有)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:56695
ENSEMBL:ENSMUSG00000026179
UNIPROT:Q69ZP3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
56695
4
10
69095 bp
43.02
7
8
Pnkd Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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