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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
Egln1 - egl-9 family hypoxia-inducible factor 1
Alias:
Phd2
HPH-2
ORF13
SM-20
C1orf12
HIF-PH2
Hif-p4h-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现酶结合活性;亚铁离子结合活性;以及肽基-脯氨酸4-二氧酶活性。参与几个过程,包括细胞内铁离子平衡;血管生成的调节;以及蛋白质在突触后的分解代谢过程的调节,调节突触传递。在心脏形态发生和迷宫层发育的上游或内部起作用。位于谷氨酸能突触中。在突触后密度中活跃。在脑;泌尿系统和躯干中表达。这个基因的人类同源物与家族性红细胞过多3;多血癌;和肾细胞癌有关。与人类的EGLN1(egl-9家族缺氧诱导因子1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:112405
ENSEMBL:ENSMUSG00000031987
UNIPROT:Q91YE3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
112405
2
5
40739 bp
43.11
14
9
Egln1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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