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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
Azin1 - antizyme inhibitor 1
Alias:
AZI
Oazi
Oazin
1700085L02Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质属于抗酶抑制剂家族,通过维持细胞内的多胺平衡,在细胞生长和增殖中发挥作用。抗酶抑制剂是鸟氨酸脱羧酶(ODC,多胺生物合成中的关键酶)的同源物,失去了脱羧鸟氨酸的能力,但仍然能够结合抗酶。抗酶通过结合ODC并将其降解,以及抑制多胺摄取,负调节细胞内多胺水平。抗酶抑制剂通过隔离抗酶并中和其作用,作为多胺水平的积极调节者发挥作用。这个基因编码抗酶抑制剂1,这是这个家族中普遍表达的第一个成员,定位于细胞核和细胞质中。抗酶抑制剂1基因的过度表达与增殖增加、细胞转化和肿瘤发生有关。基因敲除研究表明,缺乏功能抗酶抑制剂1基因的纯合子突变小鼠在出生时死亡,伴有异常的肝脏形态。这个基因的RNA编辑,主要在肝脏组织中,与肝细胞癌的进展有关。这个基因已经描述了可变剪接转录变异体。[RefSeq,2014年9月提供]
Related ID:
NCBI:54375
ENSEMBL:ENSMUSG00000037458
UNIPROT:O35484
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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54375
7
12
35833 bp
49.55
4
9
Azin1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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