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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
IMPA1 - Inositol Monophosphatase 1
Alias:
IMP
IMPA
MRT59
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因编码一种酶,该酶将肌醇单磷酸去磷酸化,产生游离肌醇,即磷脂酰肌醇的前体。因此,该酶通过产生第二信使肌醇1,4,5-三磷酸和二酰甘油,在细胞内信号传导中起着重要调节作用。该酶还可以使用肌醇-1,3-二磷酸、肌醇-1,4-二磷酸、scyllo-肌醇磷酸、葡萄糖-1-磷酸、葡萄糖-6-磷酸、果糖-1-磷酸、β-甘油磷酸和2'-AMP作为底物。该酶显示镁依赖的磷酸酶活性,并受到治疗浓度的锂抑制。抑制肌醇单磷酸羟基化,并随后减少用于磷脂酰肌醇合成的肌醇的消耗,可能解释了锂治疗双相情感障碍的抗躁狂和抗抑郁效果。可变剪接导致多个转录变异体,编码不同的异构体。这个基因的一个假基因也在染色体8q21.13上存在。[由RefSeq,2014年12月提供]
Related ID:
NCBI:3612
ENSEMBL:ENSG00000133731
HGNC:6050
UNIPROT:P29218
OMIM:602064
Basic Information
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Exons
Length
MW (kDa)
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Reference
3612
3
9
29412 bp
30.19
20
2
5
17
IMPA1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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