adenylate kinase 1(AK1) Homo sapiens This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015],catalytic activity:ATP + AMP = 2 ADP.,disease:Defects in AK1 are the cause of hemolytic anemia due to adenylate kinase deficiency [MIM:612631].,function:Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth.,online information:Adenylate kinase entry,polymorphism:This enzyme represents the most common of at least five alleles.,similarity:Belongs to the adenylate kinase family.,subunit:Monomer.,
