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AK2
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Plays a key role in hematopoiesis. Defects in AK2 are the cause of reticular dysgenesis (RDYS); also known as aleukocytosis. RDYS is the most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal.In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. Belongs to the adenylate kinase family. AK2 subfamily. 6 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: EC 2.7.4.3; Kinase, other; Mitochondrial; Nucleotide Metabolism - purine |
| Chromosomal Location of Human Ortholog: 4 D2.2|4 62.62 cM |
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Cellular Component:
cytoplasm; cytosol; mitochondrial intermembrane space; mitochondrion; nucleus; sperm flagellum; sperm mitochondrial sheath
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Molecular Function:
adenylate kinase activity; ATP binding; kinase activity; nucleotide binding; phosphotransferase activity, phosphate group as acceptor; transferase activity
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Biological Process:
ADP biosynthetic process; AMP metabolic process; ATP metabolic process; dATP metabolic process; nucleobase-containing compound metabolic process; phosphorylation
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Reference #:
Q9WTP6
(UniProtKB)
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Alt. Names/Synonyms: adenylate kinase 2; Adenylate kinase 2, mitochondrial; AK 2; Ak-2; Ak2; ATP-AMP transphosphorylase 2; D4Ertd220e; KAD2; OTTMUSP00000010093; OTTMUSP00000010094
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Gene Symbols: Ak2
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Molecular weight:
26,469 Da
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Basal Isoelectric point:
6.96
Predict pI for various phosphorylation states
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