Adenylate kinase 2, mitochondrial

Gene:

AK2 Enzyme: EC 2.7.4.3 This enzyme has known catalytic activity involved in reaction: AMP + ATP = 2 ADP Disease Reticular dysgenesis: A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, 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 immunity, 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... [click for more]

Organism:

Homo sapiens (Human)

Synonyms:

ADK2

Uniprot:

P54819go to UniProt

Biological function:

Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesisgo to UniProt

Representative structure for UniProt P54819

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PDB 2c9y chain A (observed residues)
PDB 2c9y chain A (observed residues)

PDB chain shown: 2c9y A go to PDBe

UniProt residues 1 - 239

Coverage: 91%

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74
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15
Publications

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