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The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
[中文简述(自动翻译):]  该基因的产物催化儿茶酚胺生物合成途径,其甲基化去甲肾上腺素而形成肾上腺素的最后一步。所述酶还具有β-咔啉2N-甲基转移酶活性。该基因被认为在调节肾上腺素生产的关键步骤。另外剪接转录变体也发现了这种基因。 [通过的RefSeq,2012十一月提供]
PNMT基因(以及对应的蛋白质)的细胞分布位置:
PNMT基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypertensive disease | 0.090639772 | 6 | 0 | BeFree_GAD_LHGDN_RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hypoglycemia | 0.08 | 1 | 0 | RGD |
Multiple Sclerosis | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Attention deficit hyperactivity disorder | 0.004734064 | 2 | 1 | GAD |
Alzheimer's Disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Kidney Failure, Acute | 0.002638474 | 1 | 0 | BeFree_GAD |
Obesity | 0.002638474 | 1 | 0 | BeFree_GAD |
Weight Loss Adverse Event | 0.002367032 | 1 | 0 | GAD |
Pheochromocytoma | 0.001357209 | 5 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.000542884 | 2 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 2a | 0.000542884 | 2 | 0 | BeFree |
Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Chronic heart failure | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Post MI | 0.000271442 | 1 | 0 | BeFree |
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