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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
Gch1 - GTP cyclohydrolase 1
Alias:
Gch
GTPCH
GTP-CH
GTP-CH-I
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活GTP环化水解酶I活性。参与心率的正调控。在肺血压调节的上游或内部发挥作用。预测位于细胞质囊泡;胞质溶胶;和核中。预测是含蛋白质复合物的一部分。预测在胞质中活性。在包括消化系统;泌尿系统;神经系统;呼吸系统;和感觉器官的几个结构中表达。用于研究BH4缺乏症B的苯丙氨酸血症。这个基因的人类同源物与BH4缺乏症B;双相情感障碍;肌张力障碍;和肌张力障碍5有关。与人类GCH1(GTP环化水解酶1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14528
ENSEMBL:ENSMUSG00000037580
UNIPROT:Q05915
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14528
1
6
35519 bp
27.01
7
11
Gch1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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IF
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