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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
人类
OAZ2 - Ornithine Decarboxylase Antizyme 2
Alias:
AZ2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于鸟氨酸分解酶抗酶家族,通过调节细胞内的多胺来参与细胞生长和增殖。抗酶的表达需要+1核糖体框架位移,而高浓度的多胺会增强框架位移。抗酶进一步结合并抑制鸟氨酸分解酶(ODC),这是多胺生物合成中的关键酶;因此,完成了自我调节回路。这个基因编码抗酶2,是抗酶家族的第二个成员。与抗酶1一样,抗酶2具有广泛的组织分布,抑制ODC活性和多胺摄取,并刺激ODC在体内降解;然而,它不能促进ODC在体外降解。抗酶2的表达水平低于抗酶1,但进化上更保守,表明它可能具有重要的生物学作用。研究还显示抗酶1和2具有不同的亚细胞定位,表明每个抗酶在细胞的离散区室中具有特定功能。已发现这个基因的替代剪接转录变异体。[RefSeq,2014年12月提供]
Related ID:
NCBI:4947
ENSEMBL:ENSG00000180304
HGNC:8096
UNIPROT:O95190
OMIM:604152
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
4947
2
5
15708 bp
21.01
--
--
3
3
OAZ2 Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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