AK2
Description
The AK2 (adenylate kinase 2) is a protein-coding gene located on chromosome 1.
Adenylate kinase 2 is an enzyme encoded by the AK2 gene in humans. It is located in the intermembrane space of the mitochondria and is involved in regulating the adenine nucleotide composition within a cell. AK2 catalyzes the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates (AK1, AK2, and AK3), each with tissue-specific and developmentally regulated expression. AK2 is specifically found in the mitochondrial intermembrane space and may be involved in apoptosis. Two transcript variants encoding distinct isoforms have been identified for this gene. Deficiencies in AK2 can lead to hematopoietic defects and sensorineural deafness. Reticular dysgenesis, an autosomal recessive form of human combined immunodeficiency, is characterized by impaired lymphoid maturation and early differentiation arrest in the myeloid lineage.
AK2 is also known as ADK2.
