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The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  增量(HBD)和β(HBB)基因在成人通常表示为: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。两个α链和两个增量链构成的HbA-2,其与HbF的包括成人血红蛋白的其余3%。五β样珠蛋白基因在按以下顺序一个45 kb的簇内发现11号染色体上:5‘-ε - Ggamma - Agamma - 三角洲 - β-3‘。在增量珠蛋白基因突变与β-地中海贫血相关联。 [由RefSeq的,2008年7月提供]
HBD基因(以及对应的蛋白质)的细胞分布位置:
HBD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
delta-Thalassemia | 0.122985861 | 11 | 7 | BeFree_CLINVAR |
Keloid | 0.12 | 1 | 0 | CTD_human |
Chloracne | 0.12 | 1 | 0 | CTD_human |
beta Thalassemia | 0.00434307 | 16 | 0 | BeFree |
alpha-Thalassemia | 0.00272435 | 1 | 0 | LHGDN |
Thalassemia | 0.002714419 | 10 | 0 | BeFree |
Delta-Beta Thalassemia | 0.001628651 | 6 | 0 | BeFree |
Hereditary persistence of fetal hemoglobin thalassemia | 0.001357209 | 5 | 0 | BeFree |
beta^0^ Thalassemia | 0.001085767 | 4 | 0 | BeFree |
Hemoglobinopathies | 0.000814326 | 3 | 0 | BeFree |
delta-Thalassemia | 0.000814326 | 3 | 0 | BeFree |
Beta thalassemia trait | 0.000814326 | 3 | 0 | BeFree |
Anemia, Sickle Cell | 0.000542884 | 2 | 0 | BeFree |
Hemoglobin F Disease | 0.000542884 | 2 | 0 | BeFree |
delta^0^ Thalassemia | 0.000542884 | 2 | 0 | BeFree |
Rhinitis | 0.000271442 | 1 | 0 | BeFree |
Rhinitis | 0.000271442 | 1 | 0 | BeFree |
Iron deficiency anemia | 0.000271442 | 1 | 0 | BeFree |
Thalassemia Intermedia | 0.000271442 | 1 | 0 | BeFree |
^A^gamma delta beta^0^ thalassemia | 0.000271442 | 1 | 0 | BeFree |
alpha^0^ Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Beta thalassemia intermedia | 0.000271442 | 1 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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