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The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
[中文简述(自动翻译):] 由该基因编码的蛋白质催化肌醇1,4,5-三磷酸和二酰基甘油的从磷脂酰肌醇4,5-二磷酸的形成。该反应中使用钙作为辅因子并起着在视网膜许多细胞外信号的细胞内转导中起重要作用。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2010年2月提供]
PLCB4基因(以及对应的蛋白质)的细胞分布位置:
PLCB4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Auriculo-condylar syndrome | 0.241085767 | 4 | 5 | BeFree_CLINVAR_ORPHANET |
AURICULOCONDYLAR SYNDROME 2 | 0.24 | 1 | 8 | CLINVAR_UNIPROT |
melanoma | 0.12 | 1 | 0 | CTD_human |
Metabolic Syndrome X | 0.002638474 | 2 | 0 | BeFree_GAD |
Mental disorders | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
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