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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
OAZ3 - Ornithine Decarboxylase Antizyme 3
Alias:
AZ3
OAZ-t
TISP15
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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脱羧酶抗酶家族,通过调节细胞内多胺水平参与细胞生长和增殖。抗酶的表达需要+1核糖体框架位移,这受到高浓度多胺的增强。抗酶进而结合并抑制鸟氨酸脱羧酶(ODC),这是多胺生物合成中的关键酶;从而完成自我调节回路。这个基因编码抗酶3,是抗酶家族的第三个成员。与抗酶1和2一样,抗酶3抑制ODC活性和多胺摄取;然而,它不能刺激ODC降解。此外,虽然抗酶1和2具有广泛的组织分布,但抗酶3的表达仅限于睾丸的单倍体生殖细胞,表明这个抗酶在精子发生中具有独特的作用。抗酶3基因敲除研究显示,纯合突变雄性小鼠不育,并表明这个抗酶在精子头尾在精子发生过程中形成刚性连接中的可能作用。已经发现这个基因的替代剪接转录变异体,编码不同的异构体,包括一个由非AUG(CUG)翻译起始密码子导致的结果。[RefSeq,2014年12月提供]
Related ID:
NCBI:51686
ENSEMBL:ENSG00000143450
HGNC:8097
UNIPROT:Q9UMX2
OMIM:605138
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
51686
3
5
8362 bp
27.41
8
--
1
4
OAZ3 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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