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The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
[中文简述(自动翻译):]  由该基因编码的产物是参与维持铁稳态的,并且有必要对铁存储在巨噬细胞的调节,以及用于肠道铁的吸收。的前原被翻译后切割成的20,22和25个氨基酸的成熟肽,和这些活性肽是富含半胱氨酸,其中形成稳定的β-折叠片结构分子内键。这些肽表现出对细菌和真菌的抗微生物活性。在该基因引起血色病2B型,突变也被称为青少年血色素沉着症,引起严重的铁过载导致在心肌病,肝硬化和内分泌衰竭的疾病。 [由RefSeq的,2014年10月提供]
HAMP基因(以及对应的蛋白质)的细胞分布位置:
HAMP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HEMOCHROMATOSIS, TYPE 2B | 0.36 | 3 | 2 | CLINVAR_CTD_human_UNIPROT |
Juvenile hemochromatosis | 0.247328931 | 27 | 0 | BeFree_CTD_human_ORPHANET |
Iron Overload | 0.169962624 | 104 | 7 | BeFree_CTD_human_GAD_LHGDN |
Hemochromatosis | 0.167463566 | 73 | 1 | BeFree_CTD_human_GAD_LHGDN |
Anemia | 0.150179705 | 65 | 0 | BeFree_CTD_human_LHGDN |
Hereditary hemochromatosis | 0.13302921 | 48 | 4 | BeFree_CLINVAR |
beta Thalassemia | 0.125895776 | 14 | 0 | BeFree_CTD_human_GAD |
Kidney Failure, Chronic | 0.123538676 | 4 | 0 | BeFree_CTD_human_LHGDN |
Biliary Atresia | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Hepatolenticular Degeneration | 0.12 | 1 | 0 | CTD_human |
Thalassemia | 0.011158911 | 11 | 0 | BeFree_LHGDN |
Iron deficiency | 0.006243163 | 23 | 0 | BeFree |
Inflammation | 0.0054487 | 2 | 0 | LHGDN |
Hepatitis C | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Anemia of chronic disease | 0.004885954 | 18 | 0 | BeFree |
Liver carcinoma | 0.004885954 | 18 | 0 | BeFree |
Iron Metabolism Disorders | 0.003995683 | 7 | 0 | BeFree_GAD |
Liver neoplasms | 0.003528744 | 13 | 0 | BeFree |
Rheumatoid Arthritis | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malaria | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malaria, Falciparum | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Siderosis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Adenoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Porphyria Cutanea Tarda | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Iron-Refractory Iron Deficiency Anemia | 0.002985861 | 11 | 0 | BeFree |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Lupus Erythematosus, Systemic | 0.00272435 | 1 | 0 | LHGDN |
Disorders of Porphyrin Metabolism | 0.00272435 | 1 | 0 | LHGDN |
Amyloidosis, Familial | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Iron deficiency anemia | 0.002714419 | 10 | 5 | BeFree |
Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications | 0.002367032 | 1 | 0 | GAD |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002367032 | 1 | 0 | GAD |
Cooley's anemia | 0.002171535 | 8 | 0 | BeFree |
Obesity | 0.002171535 | 8 | 0 | BeFree |
Hepatitis C, Chronic | 0.001628651 | 6 | 0 | BeFree |
Alcoholic Liver Diseases | 0.001357209 | 5 | 0 | BeFree |
Bacterial Infections | 0.001085767 | 4 | 0 | BeFree |
Liver diseases | 0.001085767 | 4 | 0 | BeFree |
Beta thalassemia intermedia | 0.001085767 | 4 | 0 | BeFree |
Metabolic Syndrome X | 0.001085767 | 4 | 0 | BeFree |
Ceruloplasmin deficiency | 0.001085767 | 4 | 0 | BeFree |
Anemia, Sickle Cell | 0.000814326 | 3 | 2 | BeFree |
Diabetes | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
Liver Cirrhosis | 0.000814326 | 3 | 0 | BeFree |
Adrenoleukodystrophy | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Atherosclerosis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Colitis | 0.000542884 | 2 | 0 | BeFree |
Endocrine System Diseases | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 1 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Ovarian Diseases | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure | 0.000542884 | 2 | 0 | BeFree |
Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
Fibrosis, Liver | 0.000542884 | 2 | 0 | BeFree |
Microcytic hypochromic anemia (disorder) | 0.000542884 | 2 | 0 | BeFree |
Chronic liver disease | 0.000542884 | 2 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000542884 | 2 | 1 | BeFree |
Chronic Kidney Insufficiency | 0.000542884 | 2 | 0 | BeFree |
Overweight | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Beta thalassemia trait | 0.000542884 | 2 | 0 | BeFree |
Chronic Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
HEMOCHROMATOSIS, TYPE 3 | 0.000542884 | 2 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000542884 | 2 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000542884 | 2 | 0 | BeFree |
Refractory anemias | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Cholangitis, Sclerosing | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Gastritis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Obesity, Morbid | 0.000271442 | 1 | 0 | BeFree |
Peritonitis | 0.000271442 | 1 | 0 | BeFree |
Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
Polycythemia | 0.000271442 | 1 | 0 | BeFree |
Preleukemia | 0.000271442 | 1 | 0 | BeFree |
Salmonella infections | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis | 0.000271442 | 1 | 0 | BeFree |
Acute Cholecystitis | 0.000271442 | 1 | 0 | BeFree |
Anemia, severe | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Parasitemia | 0.000271442 | 1 | 0 | BeFree |
Hypocupremia | 0.000271442 | 1 | 0 | BeFree |
Thalassemia Intermedia | 0.000271442 | 1 | 0 | BeFree |
Bacterial cholangitis | 0.000271442 | 1 | 0 | BeFree |
Malonic aciduria | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Hemoglobin E/beta thalassemia disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B, Chronic | 0.000271442 | 1 | 0 | BeFree |
Primary sclerosing cholangitis | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Chronic lung disease | 0.000271442 | 1 | 0 | BeFree |
Renal anemia | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Multi-centric Castleman's Disease | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Renal Insufficiency | 0.000271442 | 1 | 0 | BeFree |
Macular dystrophy, corneal type 1 | 0.000271442 | 1 | 0 | BeFree |
Refractory anemia, without ringed sideroblasts, without excess blasts | 0.000271442 | 1 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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