Entrez gene ID | | 204 |
Official gene symbol | | AK2 |
Full name | | adenylate kinase 2 |
Aliases | | ,ADK2, |
Gene summary | | Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2. |
Location | | Chromosome: 1 Locus: 1p34 |
Gene position | | 33502492 - 33473586 Map Viewer |
Gene orientation | | minus |
Gene size | | 28907 bp |
Gene sequence |
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OMIM ID | | 103020 |
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