更多...
收起
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  位于16号染色体上的人α珠蛋白基因簇跨越大约30 kb和包括七个基因位点:5‘-泽塔 - pseudozeta - 亩 - pseudoalpha-1 - α-2 - α-1 - THETA - 3‘。 α-2(HBA2)和α-1(HBA1)编码序列是相同的。这些基因在5略有差异‘非翻译区和内含子,但它们在3显著不同‘非编码区。两个α链和两个β链构成的HBA,在正常成年人的生活包括血红蛋白总量的97%左右;阿尔法链与增量链结合以构成HBA-2,其与的HbF(胎儿血红蛋白)构成成人血红蛋白的其余3%。阿尔法地中海贫血从每个阿尔法基因以及既HBA2和HBA1缺失的缺失导致;也有报道一些nondeletion阿尔法地中海贫血有。 [由RefSeq的,2008年7月提供]
HBA1基因(以及对应的蛋白质)的细胞分布位置:
HBA1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
alpha-Thalassemia | 0.332899267 | 211 | 2 | BeFree_CLINVAR_CTD_human_GAD |
Heinz Body Anemias | 0.24 | 0 | 0 | CLINVAR_CTD_human |
Hemoglobin H Disease | 0.123257302 | 12 | 0 | BeFree_ORPHANET |
Diabetes Mellitus, Non-Insulin-Dependent | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Polycythemia | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Cerebral Infarction | 0.12 | 1 | 0 | CTD_human |
Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Methemoglobinemia | 0.12 | 1 | 0 | CTD_human |
Polycythemia Vera | 0.12 | 1 | 0 | CTD_human |
Chloracne | 0.12 | 1 | 0 | CTD_human |
Hydrops Fetalis, Non-Immune | 0.12 | 0 | 0 | ORPHANET |
Alpha thalassemia-mental retardation syndrome | 0.12 | 0 | 0 | ORPHANET |
Finding of Mean Corpuscular Hemoglobin | 0.12 | 1 | 1 | GWASCAT |
alpha^+^ Thalassemia | 0.054559816 | 201 | 2 | BeFree |
beta Thalassemia | 0.049541836 | 148 | 1 | BeFree_GAD_LHGDN |
Thalassemia | 0.038565947 | 79 | 0 | BeFree_GAD_LHGDN |
Anemia, Sickle Cell | 0.014787345 | 29 | 0 | BeFree_GAD_LHGDN |
Anemia | 0.010977227 | 25 | 0 | BeFree_GAD |
alpha^0^ Thalassemia | 0.009500466 | 35 | 0 | BeFree |
Malaria, Falciparum | 0.009468128 | 4 | 0 | GAD |
Beta thalassemia trait | 0.00868614 | 32 | 0 | BeFree |
Hemoglobinopathies | 0.007524428 | 20 | 0 | BeFree_GAD |
Hypochromic anemia | 0.007372538 | 4 | 0 | BeFree_GAD |
Deficiency of glucose-6-phosphate dehydrogenase | 0.007101096 | 3 | 0 | GAD |
Thalassemia Intermedia | 0.005971721 | 22 | 2 | BeFree |
Sickle Cell Trait | 0.005276948 | 4 | 0 | BeFree_GAD |
BETA THALASSEMIA, HETEROZYGOUS | 0.005157396 | 19 | 0 | BeFree |
Hartnup Disease | 0.004885954 | 18 | 0 | BeFree |
beta^0^ Thalassemia | 0.004885954 | 18 | 0 | BeFree |
Malaria | 0.004538567 | 9 | 0 | BeFree_GAD |
Hydrops Fetalis | 0.004071628 | 15 | 0 | BeFree |
Beta thalassemia intermedia | 0.003800186 | 14 | 0 | BeFree |
delta-Thalassemia | 0.003528744 | 13 | 0 | BeFree |
Microcytic hypochromic anemia (disorder) | 0.003452799 | 5 | 0 | BeFree_GAD |
Polycystic Kidney, Autosomal Dominant | 0.003257302 | 12 | 0 | BeFree |
Cardiovascular Diseases | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Cerebrovascular accident | 0.002638474 | 2 | 0 | BeFree_GAD |
Hereditary persistence of fetal hemoglobin thalassemia | 0.002442977 | 9 | 0 | BeFree |
Albuminuria | 0.002367032 | 1 | 0 | GAD |
Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
Hemolysis (disorder) | 0.002367032 | 1 | 0 | GAD |
Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
Microcytosis | 0.002367032 | 1 | 0 | GAD |
Dyslipidemias | 0.002367032 | 1 | 0 | GAD |
Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
Haptoglobin Adverse Event | 0.002367032 | 1 | 0 | GAD |
Cooley's anemia | 0.002171535 | 8 | 0 | BeFree |
Alpha trait thalassemia | 0.002171535 | 8 | 0 | BeFree |
Thalassemia trait | 0.002171535 | 8 | 0 | BeFree |
Iron deficiency | 0.001900093 | 7 | 0 | BeFree |
Delta-Beta Thalassemia | 0.001900093 | 7 | 0 | BeFree |
Hemoglobin F Disease | 0.001628651 | 6 | 0 | BeFree |
Severe alpha thalassemia | 0.001628651 | 6 | 0 | BeFree |
Homozygous alpha thalassemia | 0.001357209 | 5 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.001085767 | 4 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.001085767 | 4 | 0 | BeFree |
Preleukemia | 0.001085767 | 4 | 0 | BeFree |
Thalassemia Minor | 0.001085767 | 4 | 0 | BeFree |
Sicca Syndrome | 0.001085767 | 4 | 0 | BeFree |
Anemia, severe | 0.001085767 | 4 | 0 | BeFree |
Hemoglobin Bart's hydrops syndrome | 0.001085767 | 4 | 0 | BeFree |
Severe beta thalassemia | 0.001085767 | 4 | 0 | BeFree |
Anemia, Hemolytic | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
Polycystic Kidney Diseases | 0.000814326 | 3 | 0 | BeFree |
Iron-Refractory Iron Deficiency Anemia | 0.000814326 | 3 | 0 | BeFree |
Iron deficiency anemia | 0.000814326 | 3 | 0 | BeFree |
Beta thalassemia minor | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000542884 | 2 | 0 | BeFree |
Cardiac Arrest | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Familial Mediterranean Fever | 0.000542884 | 2 | 0 | BeFree |
Sickle cell-beta-thalassemia | 0.000542884 | 2 | 0 | BeFree |
Normocytic hypochromic anemia | 0.000542884 | 2 | 0 | BeFree |
Dehydration | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Leg Ulcer | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pain | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
^A^gamma delta beta^0^ thalassemia | 0.000271442 | 1 | 0 | BeFree |
delta^0^ Thalassemia | 0.000271442 | 1 | 0 | BeFree |
alpha^+^ Thalassemia, deletion type | 0.000271442 | 1 | 0 | BeFree |
Hemoglobin D trait | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hemoglobin E/beta thalassemia disease | 0.000271442 | 1 | 0 | BeFree |
Alpha-Thalassemia Myelodysplasia Syndrome | 0.000271442 | 1 | 0 | BeFree |
Toxic nephropathy | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Acute Chest Syndrome | 0.000271442 | 1 | 0 | BeFree |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Hemolytic disorder | 0.000271442 | 1 | 0 | BeFree |
TUBEROUS SCLEROSIS 2 (disorder) | 0.000271442 | 1 | 0 | BeFree |
Histiocytosis with joint contractures and sensorineural deafness | 0.000271442 | 1 | 0 | BeFree |
Alcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
S-Beta Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Hemoglobin H Constant Spring | 0.000271442 | 1 | 0 | BeFree |
MYELODYSPLASTIC SYNDROME | 0.000271442 | 1 | 0 | BeFree |
Bart's Hemoglobinopathy | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。