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This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
[中文简述(自动翻译):]  该基因编码线粒体酶是催化血红素的限速步骤(铁原卟啉)的生物合成。由该基因编码的酶是看家酶;一个单独的基因编码特异于红细胞组织的酶的形式。成熟编码的蛋白质的水平通过血红素调节:高含量的血红素的线粒体下调成熟酶而低血红素水平上调。这个基因的假基因位于染色体12中的多个转录物剪接的结果变体编码不同同种型。 [由RefSeq的,2015年1月提供]
ALAS1基因(以及对应的蛋白质)的细胞分布位置:
ALAS1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Disorders of Porphyrin Metabolism | 0.2 | 2 | 0 | CTD_human_RGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Pulmonary Hypertension | 0.08 | 1 | 0 | RGD |
| Rhabdomyolysis | 0.08 | 1 | 0 | RGD |
| Sepsis | 0.08 | 1 | 0 | RGD |
| Sideroblastic anemia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Liver Failure, Acute | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Acute intermittent porphyria | 0.001085767 | 4 | 0 | BeFree |
| Hereditary sideroblastic anemia | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Erythropoietic Protoporphyria | 0.000271442 | 1 | 0 | BeFree |
| Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Microcytic hypochromic anemia (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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