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This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded precursor protein is processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a cluster of three peroxidase genes at chromosome 17q23. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  此基因是过氧化物酶基因家族的成员,并在嗜酸性粒细胞中表达。所编码的前体蛋白加工成共价连接重链和轻链,以形成成熟的酶,其功能是作为氧化剂。酶是在寄生虫感染或变应原刺激的部位释放介导原生动物或寄生虫的溶解。该基因是在三个过氧化物酶基因簇在17q23染色体中发现。突变在该基因导致嗜酸性粒细胞过氧化物酶缺乏症。 [由RefSeq的,2009年09月提供]
EPX基因(以及对应的蛋白质)的细胞分布位置:
EPX基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Presentey Anomaly | 0.12 | 1 | 1 | UNIPROT |
Hay fever | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Tuberculosis | 0.00272435 | 1 | 0 | LHGDN |
Polycythemia | 0.001628651 | 6 | 0 | BeFree |
Anemia | 0.001085767 | 4 | 0 | BeFree |
Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.000814326 | 3 | 0 | BeFree |
Polycythemia Vera | 0.000814326 | 3 | 2 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Diphtheria | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure, Chronic | 0.000542884 | 2 | 0 | BeFree |
Retinal Diseases | 0.000542884 | 2 | 0 | BeFree |
Familial erythrocytosis | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Brain Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 3 | BeFree |
Rectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Deglutition Disorders | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Ichthyosis linearis circumflexa | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Sialuria | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Myeloperoxidase Deficiency | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 3 | BeFree |
Sialic Acid Storage Disease, Finnish Type (disorder) | 0.000271442 | 1 | 0 | BeFree |
Renal anemia | 0.000271442 | 1 | 0 | BeFree |
Parvovirus B19 (disease) | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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