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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
CDS2 - CDP-diacylglycerol Synthase 2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷脂酰肌醇的分解产物是普遍存在的第二信使,它们在调节细胞生长、钙代谢和蛋白激酶C活性等许多G蛋白偶联受体和酪氨酸激酶的下游发挥作用。这个基因编码一种调节磷脂酰肌醇可用于信号传递的酶,通过催化磷酸肌酸酸盐转化为CDP-二酸甘油。这种酶是整合膜蛋白,定位在两个亚细胞结构域:内质网内膜的基质侧,被认为涉及磷脂酰肌醇甘油和卡尼丁的合成,以及内质网质膜的胞质侧,在那里它参与磷脂酰肌醇的生物合成。人类中已经发现了两个编码这种酶的基因,一个定位到人染色体4q21,另一个定位到20p13。[RefSeq,2008年7月提供]
Related ID:
NCBI:8760
ENSEMBL:ENSG00000101290
HGNC:1801
UNIPROT:O95674
OMIM:603549
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8760
2
13
70880 bp
51.42
11
--
4
18
CDS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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