Primary Identifier | IPR028587 | Type | Family |
Short Name | AK2 |
description | This entry represents the adenylate kinase 2 (AK2) subfamily of the adenylate kinases (AKs), which are nucleoside monophosphate kinases that catalyse the phosphorylation of AMP by using ATP or GTP as phosphate donors. Proteins in this entry include AK2 from humans, Adk1 from budding yeasts. In humans, nine different AK isoenzymes have been identified (AK1-9). AK2 is the major mitochondrial isoform and is expressed in the mitochondrial intermembrane space of tissues rich in mitochondria such as liver, heart and skeletal muscle []. Mutations in AK2 gene cause the reticular dysgenesis (aleukocytosis), which is the most severe form of inborn severe combined immunodeficiencies []. In budding yeasts, Adk1 (also known as Aky2) is the major isoform of AKs. It is found in both cytoplasm and mitochondrial intermembrane space. It has no cleavable mitochondrial targeting sequence []. |