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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
Aars1 - alanyl-tRNA synthetase
Alias:
sti
Aars
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使Ser-tRNA(Ala)水解酶活性、丙氨酸-tRNA连接酶活性和翻译调节活性发挥作用。参与丙氨酸-tRNA的氨基酸化、细胞质翻译准确性的调节和tRNA修饰的调节。在脑小粒细胞层发育的上游或内部发挥作用;负调节神经元凋亡过程;以及控制平衡的神经肌肉过程。预测位于细胞质中。预测在线粒体中活性。在几个结构中表达,包括肾上腺、消化系统、神经系统、呼吸系统、泌尿系统。该基因的人类同源物与Charcot-Marie-Tooth疾病轴突型2N和发育性和癫痫性脑病29有关。与人类AARS1(丙氨酸-tRNA合成酶1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:234734
ENSEMBL:ENSMUSG00000031960
UNIPROT:Q8BGQ7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
234734
3
21
24457 bp
106.91
6
16
Aars1 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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