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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
Aspa - aspartoacylase
Alias:
Acy2
nur7
Acy-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种酶,可以脱去大脑中的N-乙酰-L-天冬氨酸(NAA),生成乙酯和L-天冬氨酸。在人类中,神经元NAA浓度的改变与许多神经退行性疾病(如癫痫、多发性硬化症、肌萎缩侧索硬化症和阿尔茨海默病相关的减少;坎纳病相关的增加)有关。在小鼠中,这个基因的突变导致NAA积累,从而在CNS中引起脱髓鞘和海绵状变性,并作为坎纳病的病理生理模型。[由RefSeq,2012年12月提供]
Related ID:
NCBI:11484
ENSEMBL:ENSMUSG00000020774
UNIPROT:Q8R3P0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11484
8
6
21865 bp
35.34
9
5
Aspa Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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