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The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):] 这个基因的产物指定一个特定的红系位于线粒体酶。所编码的蛋白质催化血红素生物合成途径的第一个步骤。缺陷在该基因引起X连锁吡哆响应铁粒幼细胞贫血。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]
ALAS2基因(以及对应的蛋白质)的细胞分布位置:
ALAS2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hereditary sideroblastic anemia | 0.488957582 | 39 | 13 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Protoporphyria, Erythropoietic, X-Linked Dominant | 0.24 | 0 | 4 | CLINVAR_CTD_human |
Sideroblastic anemia | 0.128434561 | 15 | 1 | BeFree_CTD_human_LHGDN |
Erythropoietic Protoporphyria | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
Liver Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
Anemia, Hemolytic | 0.08 | 1 | 0 | RGD |
Hemochromatosis | 0.00272435 | 1 | 0 | LHGDN |
Iron Overload | 0.002171535 | 8 | 2 | BeFree |
Mucopolysaccharidosis VI | 0.001628651 | 6 | 0 | BeFree |
Anemia | 0.001085767 | 4 | 0 | BeFree |
Lysosomal Storage Diseases | 0.000814326 | 3 | 0 | BeFree |
Porphyria, Erythropoietic | 0.000814326 | 3 | 0 | BeFree |
Pyridoxine-responsive sideroblastic anemia | 0.000814326 | 3 | 0 | BeFree |
X chromosome-linked pyridoxine responsive sideroblastic anemia | 0.000814326 | 3 | 0 | BeFree |
Iron-Refractory Iron Deficiency Anemia | 0.000542884 | 2 | 0 | BeFree |
Hereditary hemochromatosis | 0.000542884 | 2 | 0 | BeFree |
Anemia, Macrocytic | 0.000271442 | 1 | 0 | BeFree |
Refractory anemias | 0.000271442 | 1 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Mucopolysaccharidoses | 0.000271442 | 1 | 0 | BeFree |
Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
Obstructive chronic bronchitis with acute exacerbation | 0.000271442 | 1 | 0 | BeFree |
Thalassemia Intermedia | 0.000271442 | 1 | 0 | BeFree |
Secondary acquired sideroblastic anemia | 0.000271442 | 1 | 0 | BeFree |
Dyserythropoietic anemia | 0.000271442 | 1 | 0 | BeFree |
Thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Refractory anemia with ringed sideroblasts | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked 1 | 0.000271442 | 1 | 0 | BeFree |
Refractory anemia, without ringed sideroblasts, without excess blasts | 0.000271442 | 1 | 0 | BeFree |
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