AK2 Gene

Last updated on: 15.03.2022

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Definition
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The AK2 gene (AK2 stands for "adenylate kinase 2) is a protein-coding gene located on chromosome 1p35.1. Adenylate kinases are involved in the regulation of adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups between adenine nucleotides.

The AK2 gene encodes isozyme 2, and the expression of these isoenzymes is tissue-specific and regulated by development. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Isozyme 2 catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. The enzyme plays an important role in cellular energy homeostasis and adenine nucleotide metabolism. Adenylate kinase activity is critical for regulating phosphate utilization and AMP de novo biosynthetic pathways. Plays a key role in hematopoiesis.

Clinical picture
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Diseases associated with AK2 include:

  • Reticular Dysgenesis (Severe Combined Immunodeficiency with Leukopenia; OMIM: 267500).
  • Immunoerythromyeloid Hypoplasia.

Literature
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  1. Alonso K et al (1972) Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia). Arch Path Lab Med 94: 179-183.
  2. de Vaal OM et al (1959) Reticular dysgenesia. Lancet 274: 1123-1125.
  3. Espanol T et al (1979) Reticular dysgenesis: report of two brothers. Clin Exp Immun 38: 615-620.
  4. Gitlin D et al (1964) Thymic alymphoplasia and congenital aleukocytosis. Pediatrics 33: 184-192.
  5. Haas RJ et al (1977) Congenital immunodeficiency and agranulocytosis (reticular dysgenesia). Acta Paediat Scand 66: 279-283.

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Last updated on: 15.03.2022