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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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人类
PLCG1 - Phospholipase C Gamma 1
Alias:
PLC1
NCKAP3
PLC-II
PLC148
PLCgamma1
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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催化磷脂酰肌醇4,5-二磷酸酯形成肌醇1,4,5-三磷酸酯和二酸甘油酯。这个反应使用钙作为辅因子,并在细胞内受体介导的酪氨酸激酶激活物的细胞内转导中扮演重要角色。例如,当被SRC激活时,编码的蛋白质导致Ras鸟苷酸交换因子RasGRP1转移到高尔基体,在那里激活Ras。此外,这个蛋白质已被证明是肝素结合生长因子1(酸性成纤维细胞生长因子)激活的酪氨酸激酶的主要底物。已经发现这个基因有两个编码不同异型的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:5335
ENSEMBL:ENSG00000124181
HGNC:9065
UNIPROT:P19174
OMIM:172420
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5335
6
32
40084 bp
148.53
33
1
8
42
PLCG1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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