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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
Chat - choline acetyltransferase
Alias:
CHOACTase
B230380D24Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
乙酰胆碱转移酶活性。在几个过程的上游或内部发挥作用,包括成年行走行为;神经肌肉接头的突触特异性的建立;以及节律兴奋。位于轴突;细胞质;和神经元细胞体。在几个结构中表达,包括消化系统;颅骨;心脏;神经系统;和视网膜。用于研究先天性肌无力综合征6。这个基因的人类同源物涉及阿尔茨海默病和先天性肌无力综合征6。与人CHAT(胆碱O-乙酰转移酶)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12647
ENSEMBL:ENSMUSG00000021919
UNIPROT:Q03059
Basic Information
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12647
1
16
57707 bp
Unknown
17
8
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GRCm39
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* This data comes from NCBI.
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