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This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的腺苷酸激酶家族的酶的成员。所编码的蛋白质定位于线粒体基质。腺苷酸激酶通过催化磷酸基团的这些核苷酸之间的可逆转移调节细胞内的腺嘌呤和鸟嘌呤核苷酸的组合物。腺苷酸激酶的5种同工酶已在脊椎动物已确定。这些同功酶的表达是组织特异性和发育调节。一种用于此基因的假已经定位于染色体17三编码相同蛋白质转录物的变体已被确定为这个基因。序列比对表明,由NM_013410,NM_203464,和NM_001005353中定义的基因位于染色体1中通过的RefSeq,2008年7月提供]
AK4基因(以及对应的蛋白质)的细胞分布位置:
AK4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
Venous Thromboembolism | 0.12 | 1 | 1 | GWASCAT |
Acute Kidney Tubular Necrosis | 0.08 | 1 | 0 | RGD |
Drug-Induced Liver Injury | 0.08 | 1 | 0 | RGD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Deficiency of butyryl-CoA dehydrogenase | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
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