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Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  腺苷酸激酶是参与通过催化磷酸基团的adinine核苷酸之间的可逆转移调节细胞内腺嘌呤核苷酸组成的酶。腺苷酸激酶的三种同工酶已在脊椎动物已经确定,腺苷酸同工酶1(AK1),2(AK2)和3(AK3)。 AK1在骨骼肌,大脑和红细胞的胞浆中,而AK2和AK3其他组织,包括肝脏和心脏的线粒体中被发现。 AK1被确定,因为它与一种罕见的遗传病症引起nonspherocytic溶血性贫血,其中在AK1基因中的突变被发现,以减少酶的催化活性相关联的。 [由RefSeq的,2008年7月提供]
AK1基因(以及对应的蛋白质)的细胞分布位置:
AK1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To | 0.48 | 3 | 8 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.12 | 1 | 0 | CTD_human |
Diabetes Mellitus, Non-Insulin-Dependent | 0.08 | 1 | 0 | RGD |
Infarction, Middle Cerebral Artery | 0.08 | 1 | 0 | RGD |
Sarcopenia | 0.08 | 1 | 0 | RGD |
Chronic hemolytic anemia | 0.004734064 | 2 | 0 | GAD |
Schizophrenia | 0.00272435 | 1 | 0 | LHGDN |
Fetal Growth Retardation | 0.002367032 | 1 | 0 | GAD |
Deficiency of adenylate kinase | 0.000814326 | 3 | 0 | BeFree |
Anemia, Hemolytic | 0.000542884 | 2 | 0 | BeFree |
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