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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
Aire - autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有相同的蛋白质结合活性。参与免疫系统发育;正调控趋化因子产生;以及调节胸腺细胞的迁移。在体液免疫应答的上游或内部发挥作用;负向胸腺T细胞选择;以及通过RNA聚合酶II的正调控转录。位于细胞质和核团中。在包括消化系统;生殖泌尿系统;血细胞系统;神经系统;和感觉器官在内的几个结构中表达。用于研究吉兰-巴雷综合征;舍格伦综合征;和自身免疫性多内分泌综合征1型。该基因的人类同源物与自身免疫性多内分泌综合征和自身免疫性多内分泌综合征1型有关。与人类AIRE(自身免疫调节器)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11634
ENSEMBL:ENSMUSG00000000731
UNIPROT:Q9Z0E3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
11634
13
14
13589 bp
59.04
23
15
Aire Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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